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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:Abnormality of skeletal maturation
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Accession:HP:0000927 term browser browse the term
Definition:The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.
Synonyms:xref: UMLS:C4025818


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Abnormality of skeletal maturation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
Accelerated bone age after puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 MIM:190351 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Accelerated skeletal maturation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAN aggrecan IAGP HPO MIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		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 AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO MIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		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 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 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 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 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 CANT1 calcium activated nucleotidase 1 IAGP HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		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 MIM:613327 ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		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 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO MIM:618870 ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO MIM:202010 ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO MIM:139300 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP HPO MIM:614507 ORPHA:300536 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO MIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		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 EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Accelerated skeletal maturation ClinVar
HPO		 PMID:25741868 PMID:31792352 MIM:620780 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		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 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 GLI3 GLI family zinc finger 3 IAGP HPO MIM:175700 ORPHA:380 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		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 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 MIM:300942 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO ORPHA:93317 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP HPO MIM:617537 NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 IAGP HPO MIM:614662 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		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 INSR insulin receptor IAGP HPO ORPHA:2297 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:605130 ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G LEP leptin IAGP HPO ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor IAGP HPO ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor IAGP HPO ORPHA:3000 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO MIM:202200 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MC4R melanocortin 4 receptor IAGP HPO ORPHA:71529 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775 		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 MKRN3 makorin ring finger protein 3 IAGP HPO MIM:615346 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 MIM:614753 ORPHA:420179 ORPHA:561 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 ORPHA:3447 ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		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 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 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 ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		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 RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNF135 ring finger protein 135 IAGP HPO ORPHA:137634 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		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 SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO ORPHA:3051 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO MIM:618786 ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TCF20 transcription factor 20 IAGP HPO MIM:618430 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP HPO MIM:618798 NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO MIM:609152 ORPHA:424 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G UBE3C ubiquitin protein ligase E3C IAGP HPO MIM:620270 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 ORPHA:370930 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Delayed skeletal maturation term browser
Symbol Object Name 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 ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:239850 ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		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 ACAN aggrecan IAGP HPO MIM:608361 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO ORPHA:337 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO MIM:208400 ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AHSG alpha 2-HS glycoprotein IAGP HPO ORPHA:2850 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		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 ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO MIM:219150 MIM:601162 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:608776 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO MIM:618625 ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO MIM:148050 ORPHA:2332 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP HPO MIM:619504 NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		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 ARID1A AT-rich interaction domain 1A IAGP HPO MIM:614607 ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 ORPHA:1465 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 ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		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 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 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 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 BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:617877 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO MIM:609441 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 MIM:613707 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO MIM:620568 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 MIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		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 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 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 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 CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP HPO ORPHA:2616 NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564 		JBrowse link
G CD96 CD96 molecule IAGP HPO MIM:211750 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		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 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 MIM:614732 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 ORPHA:808 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		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 CEP57 centrosomal protein 57 IAGP HPO MIM:614114 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHP1 calcineurin like EF-hand protein 1 IAGP HPO MIM:618438 NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		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 COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:150600 ORPHA:2380 ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 IAGP HPO MIM:619060 NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068 		JBrowse link
G COX4I2 cytochrome c oxidase subunit 4I2 IAGP HPO MIM:612714 NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO ORPHA:808 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		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 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		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 CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM:219800 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CUL7 cullin 7 IAGP HPO MIM:273750 ORPHA:2616 NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:90796 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP HPO ORPHA:90793 ORPHA:90796 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO MIM:613546 ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
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 DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO 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:260400 ORPHA:811 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 DONSON DNA replication fork stabilization factor DONSON IAGP HPO MIM:617604 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP HPO MIM:616311 NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		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 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		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 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 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:613312 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 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:33364 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 ERI1 exoribonuclease 1 IAGP HPO MIM:620662 MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO MIM:615363 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
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 EXTL3 exostosin like glycosyltransferase 3 IAGP HPO 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:2792 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		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 FARSB phenylalanyl-tRNA synthetase subunit beta IAGP HPO MIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:102370 MIM:608328 MIM:614185 ORPHA:969 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 FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		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 FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO MIM:612702 ORPHA:432 ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2645 ORPHA:432 ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		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 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 FLNB filamin B IAGP HPO MIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:261483 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO MIM:241850 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		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 FSHB follicle stimulating hormone subunit beta IAGP HPO MIM:229070 ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77259 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 ORPHA:63442 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO MIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436 		JBrowse link
G GH1 growth hormone 1 IAGP HPO MIM:262650 MIM:612781 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP HPO MIM:262500 ORPHA:314802 ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP HPO MIM:618157 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP HPO MIM:615925 ORPHA:314811 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		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 GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 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 MIM:616835 ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO ORPHA:93317 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		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 GTF2E2 general transcription factor IIE subunit 2 IAGP HPO MIM:616943 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 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 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:231140 ORPHA:231144 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		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 HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO MIM:618908 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		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:255800 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 IFT57 intraflagellar transport 57 IAGP HPO MIM:617927 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435 		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 ORPHA:73273 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 MIM:616489 ORPHA:231140 ORPHA:231144 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 IHH Indian hedgehog signaling molecule IAGP HPO ORPHA:63446 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G INSR insulin receptor IAGP HPO MIM:246200 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO ORPHA:2850 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO MIM:619147 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		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 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO MIM:614842 ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO MIM:614837 ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:605130 ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:609942 ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LGR4 leucine rich repeat containing G protein-coupled receptor 4 IAGP HPO MIM:619613 NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 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 LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LPIN2 lipin 2 IAGP HPO MIM:609628 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:2850 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:601216 MIM:617809 ORPHA:969 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		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 MALT1 MALT1 paracaspase IAGP HPO MIM:615468 NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ClinVar Annotator: match by term: Delayed skeletal maturation ClinVar
HPO		 PMID:25741868 MIM:157800 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP HPO MIM:616185 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:1762 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		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 MMP13 matrix metallopeptidase 13 IAGP HPO MIM:602111 ORPHA:2501 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		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 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 MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:618117 ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSMO1 methylsterol monooxygenase 1 IAGP HPO MIM:616834 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164 		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 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:480 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:480 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:29 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		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 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 NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021 		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 NEU1 neuraminidase 1 IAGP HPO ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP HPO MIM:617744 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G NIN ninein IAGP HPO MIM:614851 ORPHA:319675 NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162 		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 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO MIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:616255 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO ORPHA:401777 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		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 NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:228415 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 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		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 ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		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 OBSL1 obscurin like cytoskeletal adaptor 1 IAGP HPO MIM:612921 ORPHA:2616 NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859 		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 OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO MIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PAX1 paired box 1 IAGP HPO ORPHA:2792 NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481 		JBrowse link
G PAX8 paired box 8 IAGP HPO MIM:218700 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		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 PCNT pericentrin IAGP HPO MIM:210720 ORPHA:2637 ORPHA:808 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 IAGP HPO ORPHA:71528 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		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 PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		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 PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO MIM:615398 ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		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 PLK4 polo like kinase 4 IAGP HPO ORPHA:808 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO MIM:275400 ORPHA:3363 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO ORPHA:163976 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606 		JBrowse link
G POMC proopiomelanocortin IAGP HPO ORPHA:71526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO MIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO MIM:620483 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO MIM:617506 ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO MIM:616817 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO MIM:619638 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:90695 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		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:109 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 ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G QRICH1 glutamine rich 1 IAGP HPO MIM:617982 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		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 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 RBBP8 RB binding protein 8, endonuclease IAGP HPO ORPHA:808 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		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 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 RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 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 ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNF13 ring finger protein 13 IAGP HPO MIM:618379 ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP HPO MIM:618160 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		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 RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 ORPHA:1824 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 RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO MIM:303600 ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		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 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:480 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		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 SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SECISBP2 SECIS binding protein 2 IAGP HPO MIM:609698 ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 ORPHA:500166 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIN3B SIN3 transcription regulator family member B IAGP HPO ORPHA:500166 NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,398...16,880,353 		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 ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 IAGP HPO MIM:620501 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO MIM:222700 ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		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 SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:601358 MIM:619293 ORPHA:3051 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:614609 ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:614608 ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related BAF chromatin remodeling complex subunit C2 IAGP HPO ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related BAF chromatin remodeling complex subunit D1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO 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 ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO MIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO MIM:610733 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 SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:67045 ORPHA:90695 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO MIM:619665 ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		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 SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:136140 MIM:619595 ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 ORPHA:251510 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO MIM:618985 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		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 TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP HPO MIM:617432 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		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 TBCE tubulin folding cofactor E IAGP HPO MIM:241410 MIM:244460 ORPHA:2323 ORPHA:93324 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 ORPHA:488632 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 THRA thyroid hormone receptor alpha IAGP HPO MIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		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 MIM:602152 ORPHA:140976 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		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 TP53 tumor protein p53 IAGP HPO MIM:618165 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO MIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO ORPHA:808 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRH thyrotropin releasing hormone IAGP HPO MIM:275120 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
G TRHR thyrotropin releasing hormone receptor IAGP HPO MIM:618573 ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 MIM:190351 ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 MIM:184252 MIM:606835 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP HPO ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP HPO MIM:617974 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		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 WDR11 WD repeat domain 11 IAGP HPO MIM:620237 ORPHA:432 ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO MIM:618347 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		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 WT1 WT1 transcription factor IAGP HPO ORPHA:251510 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 ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		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
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 ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		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 ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Dysharmonic delayed bone age term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPT centromere protein T IAGP HPO MIM:618702 NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811 		JBrowse link
Dysharmonic skeletal maturation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Marked delay in bone age term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO MIM:262700 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormal musculoskeletal physiology 1998
          Abnormality of skeletal maturation 405
            Accelerated skeletal maturation + 70
            Delayed skeletal maturation + 352
            Dysharmonic skeletal maturation + 2
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal musculoskeletal physiology 1998
            Abnormality of skeletal maturation 405
              Accelerated skeletal maturation + 70
              Delayed skeletal maturation + 352
              Dysharmonic skeletal maturation + 2
paths to the root