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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal facial skeleton morphology
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Accession:HP:0011821 term browser browse the term
Definition:An abnormality of one or more of the set of bones that make up the facial skeleton.
Comment:The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.
Synonyms:exact_synonym: Abnormality of facial skeleton;   Anomaly of facial skeleton
 narrow_synonym: Abnormality of facial bones;   Anomaly of facial bones;   Deformity of facial skeleton;   Deformity of the facial bones;   Malformation of facial bones;   Malformation of facial skeleton
 xref: SNOMEDCT_US:433096001;   UMLS:C2315229


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Abnormal facial skeleton morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP RGD PMID:16474404 RGD:1600471 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP RGD PMID:16474404 RGD:1600471 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:563612 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO ORPHA:563612 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
Abnormal jaw morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSD1 nuclear receptor binding SET domain protein 1 severity IAGP associated with Sotos Syndrome;DNA:mutations:cds: RGD PMID:15452385 RGD:11570546 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Abnormal mandible morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
Abnormal maxilla morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
Abnormal paranasal sinus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 RGD PMID:18922348 RGD:7364876 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
Abnormal zygomatic bone morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Abnormal zygomatic bone morphology ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
Abnormality of the sphenoid sinus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Abnormality of the temporomandibular joint term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 IAGP ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr10:126,905,428...127,452,516
Ensembl chr10:126,905,409...127,452,517 		JBrowse link
G EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
Absent frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO MIM:301040 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G CTSK cathepsin K IAGP HPO MIM:265800 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO MIM:244400 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO MIM:102500 ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
Absent paranasal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
Absent/hypoplastic paranasal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G SIX2 SIX homeobox 2 IAGP HPO ORPHA:488437 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
Antegonial notching of mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO MIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
Aplasia of the maxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
Aplasia of the premaxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX3 SIX homeobox 3 IAGP HPO MIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO MIM:142946 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
Aplasia/Hypoplasia of the frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G SIX2 SIX homeobox 2 IAGP HPO ORPHA:488437 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
Aplasia/Hypoplasia of the mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:85165 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Aplastic zygomatic arch term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:200110 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
Broad jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:53697 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:178377 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
Calvarial osteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G KL klotho IAGP HPO MIM:617994 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO MIM:607634 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:244460 ORPHA:93324 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:259700 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
Central giant cell lesion of the jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3BP2 SH3 domain binding protein 2 IAGP HPO MIM:118400 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
Chronic sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIRE autoimmune regulator IAGP HPO MIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G BLNK B cell linker IAGP HPO MIM:613502 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO MIM:613807 ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO MIM:613808 ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO MIM:615504 ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CD79B CD79b molecule IAGP HPO MIM:612692 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO MIM:618063 ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP45 cilia and flagella associated protein 45 IAGP HPO MIM:619608 NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165 		JBrowse link
G CFAP52 cilia and flagella associated protein 52 IAGP HPO MIM:619607 NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Chronic sinusitis HPO
ClinVar		 PMID:1379210 PMID:1545465 PMID:7475569 PMID:7529962 PMID:7543317 More... MIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLXN calaxin IAGP HPO MIM:620642 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO MIM:615636 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF19 dynein axonemal assembly factor 19 IAGP HPO MIM:614679 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO MIM:612518 ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO MIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO MIM:618300 ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO MIM:244400 ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO MIM:612444 ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO MIM:614017 ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO MIM:615294 ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO MIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO MIM:618699 ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 RGD PMID:15577839 RGD:5147654 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO MIM:616037 ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO MIM:617092 ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:397596 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO MIM:300455 ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO MIM:616481 ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO MIM:612650 ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP HPO MIM:604571 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP HPO MIM:620813 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
Cleft mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
Craniofacial asymmetry term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP HPO MIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Craniofacial asymmetry ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO MIM:601088 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
Craniofacial hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:2484 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1522 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:174800 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3152 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2790 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2789 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOST sclerostin IAGP HPO MIM:122860 ORPHA:1513 ORPHA:3152 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO ORPHA:1513 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO ORPHA:1802 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621 		JBrowse link
Craniofacial osteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G SOST sclerostin IAGP HPO MIM:122860 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
Facial hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:176920 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:218400 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
Facial palsy secondary to cranial hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOST sclerostin IAGP HPO MIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
Fibrous syngnathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 IAGP HPO MIM:119500 ORPHA:1300 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
Giant cell granuloma of mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:600268 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
Hyperplasia of the maxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2M1 adaptor related protein complex 2 subunit mu 1 IAGP HPO MIM:618587 NCBI chr 3:184,174,855...184,184,091
Ensembl chr 3:184,174,689...184,184,214 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:140944 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SOBP sine oculis binding protein homolog IAGP HPO MIM:613671 NCBI chr 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306 		JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:313892 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO MIM:617616 ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G ZBTB11 zinc finger and BTB domain containing 11 IAGP HPO MIM:618383 NCBI chr 3:101,648,889...101,677,132
Ensembl chr 3:101,648,889...101,677,135 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP HPO MIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
Hyperplasia of the premaxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFIX nuclear factor I X IAGP HPO MIM:614753 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
Hypoplasia of mandible relative to maxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
Hypoplasia of the anterior nasal spine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
Hypoplasia of the frontal bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:615465 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:563612 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO ORPHA:563612 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
Hypoplasia of the maxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO MIM:277600 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068 		JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093 		JBrowse link
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G BGN biglycan IAGP HPO MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO MIM:613805 ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO MIM:613804 ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP ClinVar Annotator: match by term: Hypoplasia of the maxilla ClinVar PMID:25741868 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:90653 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO MIM:601390 ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:301108 ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959 		JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:305100 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO MIM:616367 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO ORPHA:79113 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO ORPHA:207 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:615546 ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:608328 ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:101600 MIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101400 MIM:101600 MIM:123500 ORPHA:1540 ORPHA:207 ORPHA:794 ORPHA:87 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 ORPHA:93262 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNB filamin B IAGP HPO MIM:108721 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO ORPHA:782 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:251061 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:257850 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:2662 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:99772 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO MIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO MIM:609460 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:601216 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO MIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:309520 ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO MIM:224690 ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO MIM:613803 ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:122880 ORPHA:1529 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:439822 ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO MIM:180500 ORPHA:782 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO ORPHA:93945 ORPHA:93950 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO MIM:619142 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:156510 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP HPO ORPHA:50814 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:245 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO MIM:182212 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO ORPHA:2095 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:2250 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO MIM:105830 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G STAMBP STAM binding protein IAGP HPO MIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO ORPHA:397973 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:106260 MIM:129400 MIM:604292 ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP HPO MIM:618302 NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO MIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:101400 ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:209885 ORPHA:920 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:99772 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO MIM:105830 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO MIM:300676 ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO MIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
Hypoplasia of the premaxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
Hypoplasia of the zygomatic bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:1340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO MIM:618500 ORPHA:556955 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:1555 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO MIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:248390 ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO MIM:613717 ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:245 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:200110 ORPHA:920 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
Hypoplastic facial bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP120 centrosomal protein 120 IAGP HPO MIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G DYM dymeclin IAGP HPO MIM:223800 MIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:619793 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
Hypoplastic frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase IAGP HPO MIM:208400 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
Increased size of the mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO MIM:300048 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
Jaw contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTN1 contactin 1 IAGP HPO MIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
Jaw swelling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3BP2 SH3 domain binding protein 2 IAGP HPO MIM:118400 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO MIM:619323 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
Malar flattening term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO MIM:612813 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
G ADAMTSL4 ADAMTS like 4 IAGP HPO ORPHA:1885 NCBI chr 1:150,549,408...150,560,937
Ensembl chr 1:150,549,369...150,560,937 		JBrowse link
G AGL amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase IAGP HPO MIM:232400 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO MIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM:219200 ORPHA:357074 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:357074 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO MIM:301040 MIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO MIM:615984 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G BGN biglycan IAGP HPO MIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO MIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO MIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 IAGP HPO ORPHA:2108 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO MIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:missense mutations, deletion:CDS:multiple RGD PMID:20004762 RGD:155663488 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO ORPHA:85172 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:154780 MIM:228520 MIM:604841 ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:184840 MIM:215150 MIM:614524 ORPHA:166100 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:108300 MIM:156550 MIM:183900 MIM:271700 ORPHA:166100 ORPHA:85166 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:619329 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:250984 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:250984 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:250984 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CUL7 cullin 7 IAGP HPO MIM:273750 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO MIM:601390 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Malar flattening ClinVar PMID:25741868 PMID:28492532 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO MIM:263750 ORPHA:246 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 IAGP HPO MIM:300850 NCBI chr  X:70,444,835...70,505,490
Ensembl chr  X:70,444,835...70,505,490 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO MIM:242860 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP DNA:mutations:multiple
associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple		 HPO
RGD		 PMID:22305528 PMID:24470203 MIM:610536 ORPHA:79113, RGD:10045557, RGD:155791662 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO MIM:610253 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G ELN elastin IAGP HPO MIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO MIM:600775 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP HPO MIM:300261 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:615546 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 ORPHA:1885 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:123150 MIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 MIM:101400 MIM:123150 MIM:123790 MIM:207410 MIM:614592 ORPHA:1555 ORPHA:93259 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:100800 MIM:146000 MIM:602849 ORPHA:53271 ORPHA:93262 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300244 MIM:304120 MIM:311300 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO MIM:108720 MIM:108721 MIM:150250 ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO MIM:602482 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO MIM:613670 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:93328 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 ORPHA:2078 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO ORPHA:364028 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GSC goosecoid homeobox IAGP HPO MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:98791 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:98791 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO MIM:600430 NCBI chr 2:239,048,168...239,401,649
NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 IAGP HPO MIM:301025 NCBI chr  X:132,626,015...132,961,370
Ensembl chr  X:132,626,015...132,961,395 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:224410 MIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO MIM:603546 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:607131 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP HPO MIM:615071 ORPHA:319671 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:176670 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO MIM:222448 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:212780 ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO MIM:601088 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP HPO MIM:614202 ORPHA:397941 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Malar flattening ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO ORPHA:228402 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300260 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO MIM:225060 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:601321 ORPHA:139474 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NGF nerve growth factor IAGP HPO ORPHA:64752 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 HPO
RGD		 PMID:26571461 MIM:300967 ORPHA:466791, RGD:11058183 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO MIM:102500 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:130720 ORPHA:2789 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO MIM:619543 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:300831 ORPHA:251383 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:64752 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO MIM:612921 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:122880 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO MIM:614613 ORPHA:439822 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PDZD8 PDZ domain containing 8 IAGP HPO MIM:620021 NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO MIM:266510 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO MIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO MIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:615139 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO MIM:618939 ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:248390 ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO MIM:613717 ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:253280 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 MIM:207410 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO MIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 ORPHA:93946 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP HPO MIM:619354 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:215045 ORPHA:50945 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO MIM:612940 ORPHA:2078 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO MIM:616420 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:1387 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:1387 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO MIM:182290 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RDH11 retinol dehydrogenase 11 IAGP HPO MIM:616108 ORPHA:436245 NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793 		JBrowse link
G RFX7 regulatory factor X7 IAGP HPO MIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082 		JBrowse link
G RHOA ras homolog family member A IAGP HPO MIM:618727 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP HPO MIM:300978 NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO MIM:603116 ORPHA:85199 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO MIM:613309 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO MIM:616723 ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO MIM:612313 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP HPO MIM:607812 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:616831 MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ClinVar Annotator: match by term: Underdevelopment of malar bone ClinVar
HPO		 PMID:25741868 MIM:154400 ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO MIM:142945 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO MIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:256050 MIM:600972 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO MIM:269250 ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 ORPHA:52503 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 ORPHA:284984 ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SOST sclerostin IAGP HPO MIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:521258 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G TAT tyrosine aminotransferase IAGP HPO ORPHA:28378 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO MIM:602342 ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX22 T-box transcription factor 22 IAGP HPO ORPHA:921 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO MIM:154500 ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO MIM:614816 ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO MIM:610168 ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO MIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO MIM:614424 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:604292 ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:101400 MIM:180750 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO MIM:300860 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO MIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Malar prominence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTDP1 CTD phosphatase subunit 1 IAGP HPO MIM:604168 ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:3459 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor IAGP HPO ORPHA:3459 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO ORPHA:436182 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:436182 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
Mandibular aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO ORPHA:1832 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:990 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO MIM:202650 ORPHA:990 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		JBrowse link
Mandibular condyle aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO MIM:602483 ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:614669 ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
Mandibular condyle hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO MIM:602483 ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:614669 MIM:620458 ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
Mandibular hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:176920 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
Mandibular osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO MIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
Mandibular osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO ORPHA:53697 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:166600 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
Mandibular pain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO MIM:607634 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO MIM:167400 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
Mandibular prognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO MIM:165800 MIM:612813 ORPHA:171866 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTB actin beta IAGP HPO MIM:620475 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ADAMTSL1 ADAMTS like 1 IAGP HPO ORPHA:521445 NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950 		JBrowse link
G ADAMTSL4 ADAMTS like 4 IAGP HPO ORPHA:1885 NCBI chr 1:150,549,408...150,560,937
Ensembl chr 1:150,549,369...150,560,937 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO MIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 IAGP HPO MIM:618006 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:619031 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO MIM:612936 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO MIM:617169 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ASCC3 activating signal cointegrator 1 complex subunit 3 IAGP HPO MIM:620700 NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:617183 ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP HPO ORPHA:411515 NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184 		JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP HPO MIM:619971 NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO MIM:301040 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO MIM:618087 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO MIM:608931 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO MIM:300114 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP HPO ORPHA:324410 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G CSNK2B casein kinase 2 beta IAGP ClinVar Annotator: match by term: Mandibular prognathia HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 PMID:35571680 MIM:618732 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CUL4B cullin 4B IAGP HPO MIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CUL7 cullin 7 IAGP HPO MIM:273750 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO MIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Mandibular prognathia ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:615828 ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:404443 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DOCK3 dedicator of cytokinesis 3 IAGP HPO MIM:618292 NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Mandibular prognathia ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DYM dymeclin IAGP HPO MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO MIM:610253 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 ORPHA:90321 ORPHA:90322 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 ORPHA:90321 ORPHA:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERLEC1 endoplasmic reticulum lectin 1 IAGP ClinVar Annotator: match by term: Mandibular prognathia ClinVar NCBI chr 2:53,787,044...53,818,796
Ensembl chr 2:53,787,009...53,833,038 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO MIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:1885 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO MIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:101600 MIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 MIM:101600 MIM:123500 ORPHA:1540 ORPHA:168624 ORPHA:87 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FLCN folliculin IAGP HPO MIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO MIM:300624 ORPHA:449291 ORPHA:908 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO ORPHA:261144 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO MIM:608931 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:218400 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Mandibular prognathia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 ORPHA:2078 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GPR75-ASB3 GPR75-ASB3 readthrough IAGP ClinVar Annotator: match by term: Mandibular prognathia ClinVar NCBI chr 2:53,670,293...53,859,967
Ensembl chr 2:53,532,672...53,860,160 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO ORPHA:364028 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP HPO MIM:617864 NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H3-3B H3.3 histone B IAGP HPO MIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO MIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:615516 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 IAGP HPO MIM:301025 NCBI chr  X:132,626,015...132,961,370
Ensembl chr  X:132,626,015...132,961,395 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607016 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO MIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP HPO MIM:300143 NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619750 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INSR insulin receptor IAGP HPO MIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO MIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO MIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:135500 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KDM6B lysine demethylase 6B IAGP HPO MIM:618505 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO MIM:152950 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO MIM:615637 ORPHA:397612 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:614305 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2790 ORPHA:3416 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:601216 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO MIM:601088 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO MIM:156200 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MED13L mediator complex subunit 13L IAGP HPO ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO MIM:618644 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:212066 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO MIM:617675 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:324604 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO ORPHA:3377 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO MIM:618975 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 IAGP HPO MIM:616116 NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO MIM:300912 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:614753 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO ORPHA:627 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 IAGP HPO MIM:620001 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO MIM:300486 ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO MIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:148820 MIM:193500 ORPHA:894 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDHGC4 protocadherin gamma subfamily C, 4 IAGP HPO MIM:619880 NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO MIM:614613 ORPHA:439822 ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO MIM:239300 ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 ORPHA:93945 ORPHA:93950 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO MIM:619143 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:109400 ORPHA:377 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:2969 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:151100 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO ORPHA:2078 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO MIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO MIM:611553 MIM:611554 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP DNA:deletions, frameshift mutations:cds: HPO
RGD		 PMID:12652298 MIM:182290 ORPHA:819, RGD:1599405 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RFX7 regulatory factor X7 IAGP HPO MIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO MIM:300953 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNF125 ring finger protein 125 IAGP HPO MIM:616260 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,088,144 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 ORPHA:435938 ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO MIM:303600 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP HPO MIM:617773 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:324604 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:616831 MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP HPO MIM:619080 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 ORPHA:2963 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO MIM:300896 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP HPO MIM:616269 ORPHA:457212 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO MIM:300243 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO MIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SMS spermine synthase IAGP HPO MIM:309583 ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO MIM:105830 ORPHA:411515 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SOST sclerostin IAGP HPO MIM:122860 MIM:269500 ORPHA:3416 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO MIM:137940 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:619595 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:521258 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STEEP1 STING1 ER exit protein 1 IAGP HPO MIM:301013 NCBI chr  X:119,538,149...119,565,409
Ensembl chr  X:119,538,149...119,565,409 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO MIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO MIM:618786 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G SVIL supervillin IAGP HPO MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO ORPHA:397973 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO MIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:131300 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THUMPD1 THUMP domain containing 1 IAGP HPO MIM:619989 NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP HPO MIM:601680 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO MIM:617731 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TTN titin IAGP HPO ORPHA:324604 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:209885 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO MIM:608572 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G U2AF2 U2 small nuclear RNA auxiliary factor 2 IAGP HPO MIM:620535 NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO MIM:105830 ORPHA:411511 ORPHA:411515 ORPHA:98794 ORPHA:98795 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO MIM:300676 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO MIM:604317 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
Maxillozygomatic hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
Micrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:369942 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO MIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171436 ORPHA:171439 ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTB actin beta IAGP HPO ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP HPO ORPHA:2604 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO MIM:225410 ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:98889 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO MIM:618000 ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO MIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B IAGP HPO MIM:619616 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO MIM:615829 ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 IAGP HPO MIM:620025 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO MIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:619036 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:263210 ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:52022 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO MIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G ANAPC7 anaphase promoting complex subunit 7 IAGP HPO MIM:619699 NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:251066 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO MIM:616681 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO MIM:230740 ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARCN1 archain 1 IAGP HPO MIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO MIM:617808 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARL6IP6 ARF like GTPase 6 interacting protein 6 IAGP HPO ORPHA:1556 NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO MIM:617622 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:300215 ORPHA:452 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO MIM:608716 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:617183 MIM:618810 ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:301045 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO MIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 ORPHA:808 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G ATRIP ATR interacting protein IAGP HPO ORPHA:808 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO MIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO MIM:615834 ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:271640 MIM:609465 MIM:615349 ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO MIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO MIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO MIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369942 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP HPO MIM:617101 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G BDNF brain derived neurotrophic factor IAGP HPO ORPHA:893 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO MIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Micrognathia HPO
ClinVar		 PMID:25558065 PMID:25741868 MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO MIM:607932 ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO MIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO MIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO MIM:617755 ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 MIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:614498 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP HPO MIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C1R complement C1r IAGP HPO ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO MIM:614756 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706 		JBrowse link
G CAPRIN1 cell cycle associated protein 1 IAGP HPO MIM:620782 NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO MIM:300749 ORPHA:163937 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP HPO MIM:619123 NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO MIM:211350 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CD96 CD96 molecule IAGP HPO MIM:211750 ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO MIM:613805 ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997 		JBrowse link
G CDK5 cyclin dependent kinase 5 IAGP HPO MIM:616342 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) RGD PMID:26436113 RGD:13450906 NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO ORPHA:397590 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO MIM:613804 ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPE centromere protein E IAGP HPO MIM:616051 ORPHA:808 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		JBrowse link
G CENPF centromere protein F IAGP HPO MIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:613823 ORPHA:808 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Micrognathia HPO
ClinVar		 PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 More... ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP295 centrosomal protein 295 IAGP HPO MIM:620767 NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO MIM:614114 ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 IAGP HPO MIM:619873 NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321 		JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 IAGP HPO ORPHA:2108 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO MIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO ORPHA:261229 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Underdevelopment of mandible ClinVar
HPO		 PMID:25741868 ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:253290 MIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO MIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:253290 MIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO MIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO ORPHA:1545 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP HPO ORPHA:453510 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP HPO MIM:618608 NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO MIM:618266 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO MIM:608779 ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:154780 MIM:604841 ORPHA:440354 ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:215150 MIM:614524 ORPHA:1427 ORPHA:166100 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO MIM:616720 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:259420 ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:259420 ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Micrognathia ClinVar
HPO		 PMID:12544472 PMID:20179744 PMID:22496037 PMID:25741868 PMID:26747767 More... MIM:108300 ORPHA:166100 ORPHA:93316 ORPHA:93346 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 ORPHA:2500 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:619329 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:620727 ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:250984 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:250984 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:250984 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPE carboxypeptidase E IAGP HPO MIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 MIM:618332 ORPHA:353277 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 ORPHA:1545 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 IAGP HPO MIM:617062 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CTSK cathepsin K IAGP HPO MIM:265800 ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO MIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP HPO MIM:250410 ORPHA:166035 NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO MIM:601390 ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO MIM:263750 ORPHA:246 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO MIM:618272 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO MIM:267000 ORPHA:2849 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254525 ORPHA:254531 ORPHA:96184 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO MIM:615807 ORPHA:808 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO MIM:242860 ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO MIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DOK7 docking protein 7 IAGP HPO MIM:618389 ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO MIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO MIM:608093 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO MIM:616901 ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO MIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO MIM:615042 ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:293948 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO MIM:270750 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:180700 MIM:616331 ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO MIM:616894 ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar
HPO		 PMID:25741868 ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO MIM:614104 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO ORPHA:96148 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:300960 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EDN1 endothelin 1 IAGP HPO MIM:615706 ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO MIM:616367 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP DNA:mutations:multiple
associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple		 HPO
RGD		 PMID:22305528 PMID:24470203 MIM:610536 ORPHA:79113, RGD:10045557, RGD:155791662 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO MIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP HPO MIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 ORPHA:480898 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP HPO MIM:211180 ORPHA:1270 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 MIM:613684 MIM:618333 ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO MIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:607598 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO MIM:610756 ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO MIM:616570 ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:75857 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:52022 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:52429 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 ORPHA:1832 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:3412 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO MIM:614083 ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:615546 ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 ORPHA:2462 ORPHA:284979 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO MIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO MIM:618156 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO MIM:610706 ORPHA:90024 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2645 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:614592 ORPHA:2363 ORPHA:313855 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:236670 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLCN folliculin IAGP HPO MIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FLNA filamin A IAGP HPO MIM:304120 MIM:309350 ORPHA:1826 ORPHA:2484 ORPHA:555877 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO MIM:108720 MIM:108721 ORPHA:1190 ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FOCAD focadhesin IAGP HPO MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO MIM:153400 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXI3 forkhead box I3 IAGP HPO MIM:620444 NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO MIM:164745 ORPHA:3107 ORPHA:93328 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO MIM:301091 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B IAGP HPO ORPHA:363686 NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:608013 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDF11 growth differentiation factor 11 IAGP HPO MIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO MIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GHR growth hormone receptor IAGP HPO ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:257850 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO MIM:253310 MIM:611890 ORPHA:1486 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:1556 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO MIM:602483 ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GOLGA2 golgin A2 IAGP HPO MIM:620240 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 ORPHA:93329 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GRB10 growth factor receptor bound protein 10 IAGP HPO ORPHA:96182 NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO MIM:617667 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G GSC goosecoid homeobox IAGP HPO MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO MIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:98791 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:98791 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP HPO ORPHA:163966 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO MIM:300882 ORPHA:199 ORPHA:3459 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HDAC9 histone deacetylase 9 IAGP HPO MIM:620457 NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO MIM:620072 ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO ORPHA:2268 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:397590 ORPHA:94063 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO MIM:300986 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP HPO ORPHA:238769 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G HOXB1 homeobox B1 IAGP HPO MIM:614744 NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:224410 MIM:255800 ORPHA:1865 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP HPO MIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO MIM:614099 MIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO MIM:608747 ORPHA:73272 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:180860 ORPHA:397590 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP HPO ORPHA:140941 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:397933 ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:1300 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G IRX5 iroquois homeobox 5 IAGP HPO MIM:611174 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple HPO
RGD		 PMID:22265017 MIM:603736 MIM:606170 ORPHA:3047 ORPHA:85201, RGD:9588485 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP HPO MIM:614098 ORPHA:435628 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP HPO MIM:618381 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KDM4B lysine demethylase 4B IAGP HPO MIM:619320 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,611 		JBrowse link
G KDM5A lysine demethylase 5A IAGP HPO MIM:620820 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 MIM:300867 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO MIM:619501 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO MIM:616258 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:614120 ORPHA:2189 ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO MIM:615731 ORPHA:171436 ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:605130 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 MIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KNL1 kinetochore scaffold 1 IAGP HPO MIM:604321 NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO MIM:301006 ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor IAGP HPO ORPHA:3459 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Little mandible ClinVar
HPO		 PMID:25741868 PMID:30905398 MIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:94063 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 MIM:620089 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP HPO MIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C)		 HPO
RGD		 PMID:19875478 PMID:15286156 MIM:151660 MIM:176670 MIM:248370 ORPHA:1662 ORPHA:280365 ORPHA:740 ORPHA:79474, RGD:10003154, RGD:10003156 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LOC130065793 ATAC-STARR-seq lymphoblastoid silent region 12876 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chr20:36,605,773...36,606,082 JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:212780 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LRRC32 leucine rich repeat containing 32 IAGP HPO MIM:619074 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) HPO
RGD		 PMID:31825158 MIM:605275 ORPHA:648, RGD:151708718 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAB21L1 mab-21 like 1 IAGP HPO ORPHA:495875 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619005 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO MIM:166300 ORPHA:233 ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:994 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO MIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO MIM:616734 ORPHA:2505 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:620323 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO MIM:156200 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 IAGP HPO MIM:617564 NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,134...35,425,431 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Micrognathia HPO
ClinVar		 PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... MIM:300055 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:300895 MIM:305450 MIM:309520 ORPHA:776 ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254525 ORPHA:254531 ORPHA:96184 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP HPO MIM:617228 NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO MIM:617306 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO MIM:617675 ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:618524 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:164280 ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 ORPHA:1147 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO MIM:158300 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO MIM:619941 ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO MIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:615419 MIM:616266 ORPHA:1147 ORPHA:371364 ORPHA:562528 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO MIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171436 ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO MIM:225060 ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO MIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFASC neurofascin IAGP HPO MIM:618356 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO MIM:102500 ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:130720 ORPHA:2789 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 MIM:619695 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:300831 MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO ORPHA:436182 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO MIM:616730 MIM:618348 ORPHA:2065 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP85 nucleoporin 85 IAGP HPO ORPHA:808 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO MIM:618393 ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G NXN nucleoredoxin IAGP HPO MIM:618529 ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 ORPHA:2754 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO MIM:224690 ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO MIM:613800 ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO MIM:613803 ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO MIM:617729 ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PAH phenylalanine hydroxylase IAGP HPO ORPHA:2209 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP HPO MIM:618458 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:893 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PAX7 paired box 7 IAGP HPO MIM:618578 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:808 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:439822 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PEPD peptidase D IAGP HPO MIM:170100 ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO MIM:614887 ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO MIM:614882 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:214110 ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Mandibular micrognathia ClinVar
HPO		 PMID:25741868 ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO MIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHF21A PHD finger protein 21A IAGP HPO ORPHA:52022 NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP HPO MIM:617991 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:616531 MIM:619708 ORPHA:98889 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO MIM:616843 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:114300 MIM:248700 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO MIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP HPO MIM:619356 NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO MIM:614080 ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO MIM:618548 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:269880 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO MIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO MIM:256600 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO ORPHA:397590 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:614669 MIM:620458 ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO MIM:616171 ORPHA:808 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO MIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Micrognathia HPO
ClinVar		 PMID:25741868 MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:618336 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO MIM:618939 ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:248390 ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO MIM:613717 ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:253280 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:236670 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP HPO MIM:618820 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO MIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:617711 MIM:618265 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO MIM:309500 ORPHA:93946 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRIM1 DNA primase subunit 1 IAGP HPO MIM:620005 NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO MIM:202650 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO MIM:616038 ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G PSMC1 proteasome 26S subunit, ATPase 1 IAGP HPO MIM:620071 NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO MIM:617516 ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PSPH phosphoserine phosphatase IAGP HPO ORPHA:79350 NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 ORPHA:109 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:156400 MIM:215045 ORPHA:50945 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:163950 ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:314655 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G PUS1 pseudouridine synthase 1 IAGP HPO MIM:600462 ORPHA:2598 NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896 		JBrowse link
G PUS7 pseudouridine synthase 7 IAGP HPO MIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO MIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO MIM:614222 ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:600118 ORPHA:1387 ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:212720 ORPHA:1387 ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAB5IF RAB5 interacting factor IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chr20:36,605,779...36,612,557
Ensembl chr20:36,605,779...36,612,557 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO MIM:618577 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:1713 ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO MIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO MIM:618388 ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RARB retinoic acid receptor beta IAGP HPO MIM:615524 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:1587 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:606744 ORPHA:808 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO MIM:311900 ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO MIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RDH11 retinol dehydrogenase 11 IAGP HPO ORPHA:436245 NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 MIM:268400 ORPHA:1225 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 ORPHA:494344 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RFT1 RFT1 homolog IAGP HPO MIM:612015 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO MIM:613075 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:263650 ORPHA:1234 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP HPO MIM:300978 NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO ORPHA:85199 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO MIM:612561 ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO MIM:613309 ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO MIM:606164 ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO MIM:618021 ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254525 ORPHA:254531 ORPHA:96184 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP HPO MIM:620310 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO MIM:612313 ORPHA:251019 ORPHA:251028 ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO MIM:607330 ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO MIM:618766 ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO MIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO MIM:615761 ORPHA:404440 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ClinVar Annotator: match by term: Underdevelopment of mandible
DNA:mutations, haploinsufficiency:exon:multiple (human)		 ClinVar
HPO
RGD		 PMID:25741868 PMID:22541558 MIM:154400 ORPHA:245, RGD:11062353 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO MIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SHOX SHOX homeobox IAGP HPO MIM:249700 ORPHA:314795 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:171829 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO ORPHA:52429 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO MIM:182212 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO MIM:607196 ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:256050 ORPHA:56304 ORPHA:628 ORPHA:93298 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO MIM:613951 ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619657 ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:300590 ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO MIM:610759 ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMC5 structural maintenance of chromosomes 5 IAGP HPO MIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873 		JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP HPO MIM:619268 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP DNA:missense mutations:CDS:multiple (human) HPO
RGD		 PMID:26971886 MIM:117650 ORPHA:1393, RGD:155641254 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SOX6 SRY-box transcription factor 6 IAGP HPO MIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 ORPHA:140 ORPHA:718 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO MIM:613849 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO MIM:145420 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP HPO MIM:615959 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO MIM:619312 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPOP speckle type BTB/POZ protein IAGP HPO MIM:618829 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO MIM:611431 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO MIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:98889 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP HPO MIM:300934 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO MIM:255995 ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP HPO ORPHA:502434 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO MIM:301022 MIM:301043 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO MIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO ORPHA:261229 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP HPO ORPHA:199 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO MIM:617193 ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:241410 ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP DNA:frameshift mutation:CDS:p.Y4188fsX459 HPO
RGD		 PMID:24637876 MIM:188400 ORPHA:1727 ORPHA:567, RGD:155641255 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO MIM:147891 ORPHA:3301 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO MIM:154500 ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:258860 ORPHA:2753 ORPHA:2754 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO MIM:617952 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO MIM:616145 ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO MIM:610168 ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TGIF2-RAB5IF TGIF2-RAB5IF readthrough IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chr20:36,574,515...36,612,557
Ensembl chr20:36,574,553...36,612,384 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO MIM:613680 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO MIM:617562 ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2754 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2754 ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP HPO MIM:601680 ORPHA:1147 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1147 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B IAGP HPO MIM:619243 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO MIM:614969 ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TOMM7 translocase of outer mitochondrial membrane 7 IAGP HPO MIM:620601 NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1147 ORPHA:171436 ORPHA:171439 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171439 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO MIM:616777 ORPHA:808 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO MIM:617061 ORPHA:476126 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:93299 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:166063 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO MIM:300946 ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP HPO MIM:156610 ORPHA:2505 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:617746 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:209885 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO MIM:619879 ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO MIM:608572 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO MIM:244450 ORPHA:2707 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G UHRF1 ubiquitin like with PHD and ring finger domains 1 IAGP HPO ORPHA:2268 NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Underdevelopment of mandible ClinVar PMID:25741868 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO MIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO MIM:216550 ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO MIM:208085 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO MIM:619135 ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO MIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:220210 ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO MIM:617616 ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:613610 ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO MIM:604317 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO MIM:251300 ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WLS Wnt ligand secretion mediator IAGP HPO MIM:619648 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO MIM:273395 ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:180700 ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:893 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO MIM:616211 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:436182 ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP HPO ORPHA:2598 NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO MIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO MIM:612337 ORPHA:36367 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO ORPHA:2268 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO MIM:618659 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:275210 MIM:608612 ORPHA:1662 ORPHA:740 ORPHA:90154 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF292 zinc finger protein 292 IAGP HPO MIM:619188 NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO MIM:615095 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO MIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP HPO MIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Microretrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:300884 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM:278250 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO MIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO MIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO MIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO MIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP55 centrosomal protein 55 IAGP HPO MIM:236500 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO MIM:601776 ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:200610 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO MIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO MIM:615789 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO MIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTNND2 catenin delta 2 IAGP HPO ORPHA:281 NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:300960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP HPO MIM:606220 NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO MIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GLDN gliomedin IAGP HPO MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO MIM:616835 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO MIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO MIM:616268 ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO MIM:612292 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO ORPHA:397612 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Microretrognathia HPO
ClinVar		 PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... MIM:619793 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:324604 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Retromicrognathia ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO ORPHA:251383 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G OCLN occludin IAGP HPO MIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO MIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PAX1 paired box 1 IAGP HPO MIM:615560 NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO MIM:613717 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G PRDM13 PR/SET domain 13 IAGP HPO MIM:619909 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP HPO MIM:619737 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO MIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO MIM:616294 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:324604 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SEMA5A semaphorin 5A IAGP HPO ORPHA:281 NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP HPO MIM:615553 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TASP1 taspase 1 IAGP HPO MIM:618950 NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO MIM:614052 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO MIM:616866 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TTN titin IAGP HPO ORPHA:324604 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO MIM:619879 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO MIM:620237 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO MIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Narrow jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119 		JBrowse link
G CCNK cyclin K IAGP HPO MIM:618147 NCBI chr14:99,481,409...99,512,440
Ensembl chr14:99,481,169...99,535,044 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO MIM:618975 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
Narrow maxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO MIM:617602 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
Obtuse angle of mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSK cathepsin K IAGP ClinVar Annotator: match by term: Obtuse angle of mandible HPO
ClinVar		 PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
Opacified paranasal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
Osteosclerosis of the base of the skull term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:210110 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO ORPHA:210110 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:144755 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:210110 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
Paranasal sinus hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO MIM:603457 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
Paranasal sinus neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Prominence of the premaxilla term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC11 collectin subfamily member 11 IAGP HPO MIM:265050 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:137550 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:137550 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO MIM:614886 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G RECQL RecQ like helicase IAGP HPO MIM:620370 NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669 		JBrowse link
Prominence of the zygomatic bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
Prominent frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789 		JBrowse link
Recurrent mandibular subluxations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO MIM:225410 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
Recurrent sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP ClinVar Annotator: match by term: Recurrent sinusitis ClinVar
HPO		 PMID:33389130 MIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:300755 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO MIM:614379 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO MIM:615504 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CD19 CD19 molecule IAGP HPO MIM:240500 MIM:613493 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO MIM:615500 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO MIM:620197 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CFI complement factor I IAGP HPO MIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO MIM:130010 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO MIM:240500 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO MIM:613193 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO MIM:614935 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO MIM:612518 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO MIM:615482 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO MIM:614874 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO MIM:300991 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO MIM:608644 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO MIM:612444 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO MIM:617091 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO MIM:243700 ORPHA:217390 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP HPO MIM:615707 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO MIM:618449 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO MIM:608647 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO MIM:240500 MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G ICOSLG inducible T cell costimulator ligand IAGP HPO MIM:620825 NCBI chr21:44,216,981...44,240,943
Ensembl chr21:44,215,382...44,241,446 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO MIM:601495 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP HPO MIM:618204 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:98813 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO MIM:613953 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL21R interleukin 21 receptor IAGP HPO MIM:615207 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO MIM:617765 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178 		JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP HPO MIM:618969 NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,292,931...185,317,273 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO MIM:618695 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MDM4 MDM4 regulator of p53 IAGP HPO MIM:618849 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO MIM:613960 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO MIM:618781 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO MIM:616576 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO MIM:615577 ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO ORPHA:98813 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO MIM:620032 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO MIM:610852 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO MIM:615067 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO MIM:615451 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO MIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO MIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO MIM:615481 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO MIM:612649 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:620670 MIM:620674 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP HPO MIM:300310 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO MIM:615505 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO MIM:619707 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO MIM:619436 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G STK4 serine/threonine kinase 4 IAGP HPO MIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,084,214 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO MIM:613101 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO MIM:620880 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:188400 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO MIM:240500 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO MIM:240500 MIM:613494 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 IAGP HPO MIM:620282 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165 		JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO MIM:615518 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO MIM:615444 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO MIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
Retrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:619691 ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABAT 4-aminobutyrate aminotransferase IAGP HPO MIM:613163 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Retrognathia ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:161800 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTB actin beta IAGP HPO MIM:243310 ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO MIM:614583 ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:280071 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:263210 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO MIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G ARCN1 archain 1 IAGP HPO MIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO MIM:617808 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO MIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO MIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATG7 autophagy related 7 IAGP HPO MIM:619422 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO MIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP HPO MIM:617101 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169186 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO MIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BNC2 basonuclin zinc finger protein 2 IAGP HPO ORPHA:93110 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO MIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:163937 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO MIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO MIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CEP135 centrosomal protein 135 IAGP HPO MIM:614673 NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP295 centrosomal protein 295 IAGP HPO MIM:620767 NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP DNA:missense mutations, deletion:CDS:multiple RGD PMID:20004762 RGD:155663488 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO MIM:608779 ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO MIM:616720 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO MIM:613676 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO MIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:617915 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO MIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G DBR1 debranching RNA lariats 1 IAGP HPO MIM:620510 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949 		JBrowse link
G DDB1 damage specific DNA binding protein 1 IAGP HPO MIM:619426 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP HPO MIM:192430 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP HPO MIM:192430 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP HPO MIM:192430 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHX9 DExH-box helicase 9 IAGP HPO MIM:620988 NCBI chr 1:182,839,347...182,887,982
Ensembl chr 1:182,839,347...182,887,982 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:2849 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO MIM:270750 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:180700 ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO MIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EDN1 endothelin 1 IAGP HPO MIM:615706 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EED embryonic ectoderm development IAGP HPO MIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 ORPHA:480898 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 MIM:613684 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO MIM:601675 ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO MIM:600775 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP HPO MIM:192430 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G EXOC7 exocyst complex component 7 IAGP HPO MIM:619072 NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576 		JBrowse link
G EXOSC1 exosome component 1 IAGP HPO MIM:619304 NCBI chr10:97,435,909...97,446,006
Ensembl chr10:97,435,909...97,446,017 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO MIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO MIM:602588 ORPHA:107 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO ORPHA:1832 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:3412 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:466722 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 MIM:616914 ORPHA:2462 ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXO31 F-box protein 31 IAGP HPO MIM:615979 NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO MIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO MIM:618156 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO ORPHA:1226 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO MIM:613670 ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP HPO MIM:300983 NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO MIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO MIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO MIM:301091 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:608013 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLDN gliomedin IAGP HPO MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO MIM:611890 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G H4C3 H4 clustered histone 3 IAGP HPO MIM:619758 NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO MIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:98791 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:98791 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO MIM:300882 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO MIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP HPO MIM:619026 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO MIM:615330 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO MIM:300472 ORPHA:52055 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:616489 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO MIM:191830 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO MIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:3047 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO MIM:619981 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO MIM:615637 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Retrognathia ClinVar
HPO		 PMID:25741868 PMID:26938784 MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:212112 ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAMLD1 mastermind like domain containing 1 IAGP HPO ORPHA:456328 NCBI chr  X:150,361,572...150,514,173
Ensembl chr  X:150,361,422...150,514,178 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO MIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP HPO MIM:156200 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO MIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO MIM:618644 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:212066 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO MIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO MIM:606056 ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO MIM:234050 ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:611719 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MSL3 MSL complex subunit 3 IAGP HPO MIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO ORPHA:456328 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:620748 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP HPO MIM:620830 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO MIM:619092 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		JBrowse link
G NBN nibrin IAGP HPO ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO MIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 MIM:614753 ORPHA:561 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO MIM:615722 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:300831 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP HPO MIM:619844 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713 		JBrowse link
G NUP188 nucleoporin 188 IAGP HPO MIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO MIM:618393 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO MIM:617452 ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO MIM:301030 ORPHA:163976 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO MIM:613717 ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:618265 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PREPL prolyl endopeptidase like IAGP HPO ORPHA:163690 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PRR12 proline rich 12 IAGP HPO MIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO MIM:617516 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO MIM:615583 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUS7 pseudouridine synthase 7 IAGP HPO MIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO MIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901 		JBrowse link
G RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 IAGP HPO MIM:620655 NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858 		JBrowse link
G RARB retinoic acid receptor beta IAGP HPO MIM:615524 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:251255 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO MIM:612561 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO MIM:618022 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RSRC1 arginine and serine rich coiled-coil 1 IAGP HPO MIM:618402 NCBI chr 3:158,110,089...158,545,730
Ensembl chr 3:158,105,855...158,545,730 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169186 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCNM1 sodium channel modifier 1 IAGP HPO MIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:617056 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:171829 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO ORPHA:107 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX5 SIX homeobox 5 IAGP HPO ORPHA:107 NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO ORPHA:163690 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 ORPHA:284984 ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO MIM:610759 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO MIM:206920 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP HPO MIM:615959 ORPHA:169186 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO MIM:619312 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:619595 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:192430 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:614815 ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO MIM:614816 ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO MIM:615582 ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO MIM:610168 ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO MIM:617563 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
G TNPO2 transportin 2 IAGP HPO MIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO MIM:617061 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO ORPHA:166272 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TTN titin IAGP HPO ORPHA:169186 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO MIM:619879 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G U2AF2 U2 small nuclear RNA auxiliary factor 2 IAGP HPO MIM:620535 NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716 		JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO MIM:619959 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO ORPHA:2707 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G WBP11 WW domain binding protein 11 IAGP HPO MIM:619227 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486 		JBrowse link
G WBP4 WW domain binding protein 4 IAGP HPO MIM:620852 NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO MIM:620237 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:613610 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 IAGP HPO MIM:309610 NCBI chr  X:54,192,823...54,358,900
Ensembl chr  X:54,192,823...54,358,642 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:180700 ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO MIM:614069 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO MIM:260565 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Short mandibular rami term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMX1 H6 family homeobox 1 IAGP HPO MIM:612109 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:614669 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
Sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO MIM:102700 ORPHA:277 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BLNK B cell linker IAGP HPO ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:307200 ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G CD79A CD79a molecule IAGP HPO ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:586 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO ORPHA:379 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO ORPHA:379 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO ORPHA:379 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G DCTN4 dynactin subunit 4 IAGP HPO ORPHA:586 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,706,840...150,759,095 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO MIM:606763 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO MIM:242860 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO ORPHA:586 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:908 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXN1 forkhead box N1 IAGP HPO ORPHA:83471 NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:586 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP HPO ORPHA:586 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:586 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO ORPHA:586 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO ORPHA:33110 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO ORPHA:33110 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302 		JBrowse link
G IGSF3 immunoglobulin superfamily member 3 IAGP HPO MIM:149700 NCBI chr 1:116,574,398...116,667,755
Ensembl chr 1:116,574,399...116,667,755 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO MIM:620668 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO MIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:586 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP HPO ORPHA:33110 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:586 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G NBN nibrin IAGP HPO MIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:379 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO ORPHA:379 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO ORPHA:379 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO MIM:610852 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:33110 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO MIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO MIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:586 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP HPO ORPHA:586 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP HPO ORPHA:586 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP HPO ORPHA:33110 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 IAGP HPO ORPHA:586 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO ORPHA:586 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO ORPHA:33110 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:586 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO ORPHA:33110 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:586 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
Sphenoid wing dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO MIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Temporomandibular joint ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:614669 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:275210 ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Temporomandibular joint crepitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Thickened cortex of the mandible term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:114000 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
Trismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:616583 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO MIM:616367 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230900 ORPHA:77260 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP HPO MIM:619913 NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO MIM:158300 MIM:608837 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP HPO ORPHA:98810 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98810 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of head or neck 5872
        Abnormality of the head 5843
          Abnormal skull morphology 2642
            Abnormal facial skeleton morphology 1477
              Abnormal ethmoid bone morphology 0
              Abnormal jaw morphology + 1231
              Abnormal lacrimal bone morphology 0
              Abnormal palatine bone morphology + 0
              Abnormal paranasal sinus morphology + 228
              Abnormal vomer morphology 0
              Abnormal zygomatic bone morphology + 253
              Aplasia/Hypoplasia of facial bones + 57
              Craniofacial asymmetry 7
              Craniofacial hyperostosis + 27
              Craniofacial osteosclerosis + 15
              Fractured facial bone + 0
              Frontomalar faciosynostosis 0
              Sphenoid wing dysplasia 1
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the musculoskeletal system 14128
        Abnormality of the skeletal system 10240
          Abnormal skeletal morphology 9728
            Abnormal axial skeleton morphology 3621
              Abnormal skull morphology 2642
                Abnormal facial skeleton morphology 1477
                  Abnormal ethmoid bone morphology 0
                  Abnormal jaw morphology + 1231
                  Abnormal lacrimal bone morphology 0
                  Abnormal palatine bone morphology + 0
                  Abnormal paranasal sinus morphology + 228
                  Abnormal vomer morphology 0
                  Abnormal zygomatic bone morphology + 253
                  Aplasia/Hypoplasia of facial bones + 57
                  Craniofacial asymmetry 7
                  Craniofacial hyperostosis + 27
                  Craniofacial osteosclerosis + 15
                  Fractured facial bone + 0
                  Frontomalar faciosynostosis 0
                  Sphenoid wing dysplasia 1
paths to the root