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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 the abdominal organs
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Accession:HP:0002012 term browser browse the term
Definition:An abnormality of the viscera of the abdomen.
Comment:The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen.
Synonyms:exact_synonym: Gastrointestinal tract defects
 xref: UMLS:C4021764



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Abnormality of the abdominal organs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin IAGP HPO ORPHA:79401 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
Abdominal situs ambiguus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIROP ciliated left-right organizer metallopeptidase IAGP HPO MIM:619702 NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989
JBrowse link
G DAW1 dynein assembly factor with WD repeats 1 IAGP HPO MIM:620570 NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
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 GDF1 growth differentiation factor 1 IAGP HPO MIM:208530 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO MIM:617092 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
Abdominal situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 CFAP53 cilia and flagella associated protein 53 IAGP HPO MIM:614779 NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495
JBrowse link
G CFC1 cryptic, EGF-CFC family member 1 IAGP HPO MIM:605376 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
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 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 CPLX1 complexin 1 IAGP HPO ORPHA:280 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 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DAW1 dynein assembly factor with WD repeats 1 IAGP HPO MIM:620570 NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP ClinVar Annotator: match by term: Abdominal situs inversus
ClinVar Annotator: match by term: Situs inversus viscerum
ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837
JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO MIM:618699 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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 NODAL nodal growth differentiation factor IAGP ClinVar Annotator: match by term: Situs inversus viscerum ClinVar
HPO
MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP HPO MIM:617205 NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
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 ZIC3 Zic family member 3 IAGP HPO MIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Abnormal biliary tract morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator susceptibility IAGP associated with inflammatory bowel disease; DNA:misense mutations:multiple RGD PMID:12783301 RGD:25671445 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G GCGR glucagon receptor IAGP HPO ORPHA:438274 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3032 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G RNF43 ring finger protein 43 IAGP increased tumor/neoplasm size;DNA:insertions, nonsense mutations, missense mutation:CDS:multiple RGD PMID:27864998 RGD:151361215 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
Abnormal ductus choledochus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:436252 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO ORPHA:436252 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
JBrowse link
Abnormal gallbladder morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KEAP1 kelch like ECH associated protein 1 IAGP DNA:missense mutations, frameshift mutations:cds:multiple RGD PMID:18692501 RGD:6893398 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
Abnormal hepatic echogenicity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal hepatic glycogen storage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
Abnormal hepatic iron concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal intrahepatic bile duct morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP HPO ORPHA:79303 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
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 IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:363618 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Abnormal intrahepatic bile duct morphology ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Abnormality of the intrahepatic bile duct
ClinVar Annotator: match by term: Abnormal intrahepatic bile duct morphology
ClinVar
HPO
PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 More... ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
JBrowse link
Abnormal liver lobulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal liver parenchyma morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3032 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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 PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
JBrowse link
Abnormal liver physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal liver sonography term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HFE homeostatic iron regulator IAGP associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y RGD PMID:20019189 RGD:2317357 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha susceptibility IAGP associated with Obesity;DNA:missense mutation:cds:p.G482S (rs8192678) RGD PMID:23269818 RGD:7241847 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
Abnormal mesentery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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 WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
JBrowse link
Abnormal pancreas morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP DNA:missense mutation:cds:p.E17K RGD PMID:24132918 RGD:13462042 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation, gene fusions:multiple RGD PMID:25266736 RGD:13462041 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CASP9 caspase 9 susceptibility IAGP DNA:snp:promoter:g.-1263A>G RGD PMID:20357690 RGD:13451540 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CCND1 cyclin D1 severity IAGP DNA:snp:exon:c.870G>A RGD PMID:25470788 RGD:13462050 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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
Abnormal pancreatic duct morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTRC chymotrypsin C IAGP HPO ORPHA:103918 NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP HPO ORPHA:103918 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
Abnormal peritoneum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator IAGP HPO ORPHA:545 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL6 BCL6 transcription repressor IAGP HPO ORPHA:545 NCBI chr 3:187,721,377...187,745,468
Ensembl chr 3:187,721,377...187,745,725
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO ORPHA:1764 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP HPO ORPHA:83469 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:545 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGH immunoglobulin heavy locus IAGP HPO ORPHA:545 NCBI chr14:105,586,437...106,879,844 JBrowse link
G NAB2 NGFI-A binding protein 2 IAGP HPO ORPHA:2126 NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476
JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO ORPHA:2126 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:83469 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Abnormal spleen morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G RARB retinoic acid receptor beta IAGP HPO ORPHA:2470 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO ORPHA:2470 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G WNT7B Wnt family member 7B IAGP HPO ORPHA:2470 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
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
Abnormality of abdominal situs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP DNA:polymorphisms:cds: RGD PMID:30664273 RGD:155630603 NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
JBrowse link
Abnormality of endocrine pancreas physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAMP hepcidin antimicrobial peptide IAGP HPO ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO ORPHA:79230 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
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
Abnormality of exocrine pancreas physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:211400 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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 SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO MIM:613021 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO MIM:211400 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
JBrowse link
Abnormality of pancreas physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
Abnormality of the biliary system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 IAGP DNA:missense mutation, deletion:cds:p.K17N, p.F142_R186del RGD PMID:27319779 RGD:11568452 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
Abnormality of the gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP HPO ORPHA:280 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 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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 NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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 STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
Abnormality of the hepatic vasculature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G STOX1 storkhead box 1 IAGP HPO ORPHA:275555 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Abnormality of the liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 IAGP HPO ORPHA:234 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79320 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO MIM:614307 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G BCHE butyrylcholinesterase IAGP HPO ORPHA:132 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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 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 CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CD19 CD19 molecule IAGP HPO ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD81 CD81 molecule IAGP HPO ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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 CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CFTR CF transmembrane conductance regulator susceptibility IAGP associated with inflammatory bowel disease; DNA:misense mutations:multiple HPO
RGD
PMID:12783301 ORPHA:586, RGD:25671445 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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 CR2 complement C3d receptor 2 IAGP HPO ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 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:474 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:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
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 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: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 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 GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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 HBB hemoglobin subunit beta IAGP HPO ORPHA:231222 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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 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 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391457 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G ICOS inducible T cell costimulator IAGP HPO ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:1572 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178
JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO ORPHA:1980 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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 KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:44890 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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 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 MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO ORPHA:1572 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:254864 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:543 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO ORPHA:1980 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO ORPHA:1572 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 ORPHA:1572 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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 PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:1980 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:44890 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 ORPHA:1980 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:44 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:44 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:44 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:44 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:44 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 ORPHA:44 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:44 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:44 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 ORPHA:44 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:44 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 ORPHA:44 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 ORPHA:44 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:44 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP DNA:missense mutation:cds:p.P1073L (3218C>T) HPO
RGD
PMID:20142534 ORPHA:254892, RGD:15039298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO MIM:610131 ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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 RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:44890 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:44890 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:44890 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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 SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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 SLC20A2 solute carrier family 20 member 2 IAGP HPO ORPHA:1980 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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 SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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 SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO MIM:235550 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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 TF transferrin IAGP HPO MIM:209300 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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 TMEM67 transmembrane protein 67 IAGP HPO ORPHA:140976 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 HPO ORPHA:1572 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 ORPHA:1572 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP HPO ORPHA:1572 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO ORPHA:254864 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 IAGP HPO ORPHA:79234 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO ORPHA:1980 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
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
Abnormality of the pancreas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO ORPHA:69665 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69665 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO ORPHA:69665 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Abnormality of the pancreas ClinVar PMID:1710599 PMID:7739684 PMID:9797105 PMID:9921909 PMID:10950058 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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 HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2924 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:543 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3032 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP HPO ORPHA:69665 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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 PRKCSH PRKCSH beta subunit of glucosidase II IAGP HPO ORPHA:2924 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
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 SEC63 SEC63 homolog, protein translocation regulator IAGP HPO ORPHA:2924 NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO MIM:222470 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
JBrowse link
G TF transferrin IAGP HPO ORPHA:1195 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
Abnormality of the pancreatic islet cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLUD1 glutamate dehydrogenase 1 IAGP HPO MIM:606762 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:97279 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:97279 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
Abnormality of the spleen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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 GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:94063 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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 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 LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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 MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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 MYC MYC proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:543 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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 PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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 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 RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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 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 SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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 SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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 UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:3097 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Absent gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:612284 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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 FOXF1 forkhead box F1 IAGP HPO ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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 MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Absent gallbladder ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G RFX6 regulatory factor X6 IAGP HPO MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
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
Accessory spleen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP HPO MIM:300972 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516
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 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 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 CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
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 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 CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO 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 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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 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 EXOC2 exocyst complex component 2 IAGP HPO MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
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 HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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 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 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 MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:164280 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYRF myelin regulatory factor IAGP HPO MIM:618280 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
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
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 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 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 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 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO 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: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: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 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 TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:608978 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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
Acholic stools term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:70567 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:70567 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:613812 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP DNA:missense mutation, deletion:p.K17N, p.F142_R186del (human) HPO
RGD
PMID:27319779 MIM:617394, RGD:11568452 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP HPO MIM:607765 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G MYO5B myosin VB IAGP HPO MIM:619868 NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164
JBrowse link
G PTPN3 protein tyrosine phosphatase non-receptor type 3 IAGP HPO ORPHA:70567 NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
JBrowse link
G RFX6 regulatory factor X6 IAGP HPO MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase IAGP HPO ORPHA:70567 NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
JBrowse link
Acute hepatic steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 IAGP HPO ORPHA:209902 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP HPO MIM:210200 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
Acute hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta IAGP HPO ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP HPO MIM:238970 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
JBrowse link
Acute pancreatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO MIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
JBrowse link
G IVD isovaleryl-CoA dehydrogenase IAGP HPO ORPHA:33 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947
JBrowse link
G LMNA lamin A/C IAGP HPO MIM:151660 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LPL lipoprotein lipase IAGP HPO MIM:238600 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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 RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
Annular pancreas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:164280 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G RARB retinoic acid receptor beta IAGP HPO ORPHA:2470 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
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 RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RFX6 regulatory factor X6 IAGP HPO MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
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 SIK3 SIK family kinase 3 IAGP HPO MIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO ORPHA:2470 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
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 UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G WNT7B Wnt family member 7B IAGP HPO ORPHA:2470 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
JBrowse link
Anomalous splenoportal venous system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
Aplasia/Hypoplasia of the gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
Aplasia/Hypoplasia of the pancreas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PTF1A pancreas associated transcription factor 1a IAGP HPO ORPHA:65288 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
JBrowse link
G RARB retinoic acid receptor beta IAGP HPO ORPHA:2470 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO ORPHA:2470 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G WNT7B Wnt family member 7B IAGP HPO ORPHA:2470 NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
JBrowse link
Asplenia 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 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 BCL11A BCL11 transcription factor A IAGP HPO ORPHA:251380 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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 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 CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO 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 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 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 CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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 ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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 CFC1 cryptic, EGF-CFC family member 1 IAGP HPO MIM:605376 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 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 DNAAF2 dynein axonemal assembly factor 2 IAGP HPO 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 DNAH9 dynein axonemal heavy chain 9 IAGP HPO 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 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 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 ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO 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 GDF1 growth differentiation factor 1 IAGP HPO MIM:208530 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:251380 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP HPO ORPHA:251380 NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857
JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP HPO ORPHA:251380 NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO MIM:614034 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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 KLF1 KLF transcription factor 1 IAGP HPO ORPHA:251380 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
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 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 MNS1 meiosis specific nuclear structural 1 IAGP HPO MIM:618948 NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:164280 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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 NEK8 NIMA related kinase 8 IAGP HPO MIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455
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 NODAL nodal growth differentiation factor IAGP HPO MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO MIM:208540 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 IAGP ClinVar Annotator: match by term: Asplenia ClinVar PMID:24702954 PMID:25741868 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
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 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 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 ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO ORPHA:3204 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
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 RPSA ribosomal protein SA IAGP HPO MIM:271400 NCBI chr 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,426,255
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 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 ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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 STIM1 stromal interaction molecule 1 IAGP HPO MIM:185070 ORPHA:3204 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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 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 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO 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: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: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 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 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 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 TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G WNT3 Wnt family member 3 IAGP HPO MIM:273395 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
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 ZIC3 Zic family member 3 IAGP HPO MIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
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
Atypical or prolonged hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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 IL21 interleukin 21 IAGP DNA:SNPs:introns: (rs2221903, rs907715) RGD PMID:29879024 RGD:127285539 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
Ballooning hepatocyte degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 SLC25A13 solute carrier family 25 member 13 IAGP HPO MIM:603471 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
JBrowse link
Beta-cell dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPE carboxypeptidase E IAGP DNA:SNP:cds (rs1583645) (human) RGD PMID:23776430 RGD:405650683 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
JBrowse link
G GCK glucokinase IAGP DNA:SNP:promoter:-30G>A(human) RGD PMID:15173029 RGD:2301876 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G IDE insulin degrading enzyme IAGP DNA:SNP:cds (rs6583813) (human) RGD PMID:23776430 RGD:405650683 NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096
JBrowse link
G PAX4 paired box 4 IAGP HPO MIM:612227 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
JBrowse link
G PTH parathyroid hormone IAGP DNA:snp:exon:g.350C>A (rs6256) RGD PMID:22777106 RGD:7242744 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
Bile duct polyp term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 IAGP HPO MIM:175200 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
Bile duct proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 MIM:602347 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:612284 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:611134 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CLDN1 claudin 1 IAGP HPO MIM:607626 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:613812 ORPHA:79302 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO MIM:616217 MIM:617394 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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 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 IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G KIF12 kinesin family member 12 IAGP HPO MIM:619662 NCBI chr 9:114,091,638...114,099,292
Ensembl chr 9:114,086,126...114,099,292
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 IAGP HPO MIM:618329 NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO MIM:208540 MIM:267010 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO MIM:613027 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:203700 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Meckel Syndrome, Type 5;DNA:mutations:exons: HPO
RGD
PMID:17558409 MIM:611561, RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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 TMEM216 transmembrane protein 216 IAGP HPO MIM:603194 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:607361 MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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
Biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:615272 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G RFX6 regulatory factor X6 IAGP HPO MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
JBrowse link
G ZIC3 Zic family member 3 IAGP HPO MIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Biliary cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO MIM:617394 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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 IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G KRT18 keratin 18 IAGP HPO MIM:215600 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO MIM:208540 MIM:267010 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:53035 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP DNA:SNPs, haplotypes:multiple
associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)
DNA:SNP: intron: (rs7574865) (human)
RGD PMID:24648611 PMID:26084578 PMID:28395724 RGD:25671415, RGD:25671421, RGD:25671416 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G STX5 syntaxin 5 IAGP HPO MIM:620454 NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051
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 TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Primary biliary cirrhosis ClinVar PMID:25741868 PMID:28492532 PMID:32439973 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
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
Biliary hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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
Biliary tract abnormality term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 IAGP HPO MIM:237500 ORPHA:234 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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 BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO MIM:209920 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
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 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 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 HNF1B HNF1 homeobox B IAGP HPO MIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP HPO ORPHA:79301 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
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 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
G STK11 serine/threonine kinase 11 IAGP HPO MIM:175200 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 IAGP HPO ORPHA:79234 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
Biliary tract neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:70567 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:70567 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G PTPN3 protein tyrosine phosphatase non-receptor type 3 IAGP HPO ORPHA:70567 NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
JBrowse link
G RNF43 ring finger protein 43 IAGP HPO ORPHA:157798 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase IAGP HPO ORPHA:70567 NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
Biliary tract obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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
Bilobate gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 SC5D sterol-C5-desaturase IAGP HPO MIM:607330 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
Black pigment gallstones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
Cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:multiple mutations RGD PMID:12692057 RGD:11073239 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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 EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HIF1A-AS3 HIF1A antisense RNA 3 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163
JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
JBrowse link
G IL1B interleukin 1 beta IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6-AS1 IL6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620
JBrowse link
G LOC126859963 BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,726,650...22,727,849 JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates IAGP DNA:mutations:multiple RGD PMID:33014052 RGD:150429786 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:33357406 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
JBrowse link
G PACERR PTGS2 antisense NFKB1 complex-mediated expression regulator RNA IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr 1:186,680,654...186,681,446
Ensembl chr 1:186,680,108...186,683,165
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:53035 ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RNF43 ring finger protein 43 exacerbates IAGP associated with opisthorchiasis;DNA:SNPs:multiple: RGD PMID:22561520 RGD:151361227 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G VEGFA vascular endothelial growth factor A IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
Cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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 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 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:124000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO MIM:209920 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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 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 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 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 IL36RN interleukin 36 receptor antagonist IAGP HPO MIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:53035 ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
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 XIAP X-linked inhibitor of apoptosis IAGP HPO ORPHA:538934 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
Cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO ORPHA:69665 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 ORPHA:69663 ORPHA:69665 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO MIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G ARSA arylsulfatase A IAGP HPO MIM:250100 ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO ORPHA:69665 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G CALR calreticulin IAGP HPO ORPHA:131 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G GPI glucose-6-phosphate isomerase IAGP HPO MIM:613470 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413
JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:235700 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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 JAK2 Janus kinase 2 IAGP HPO ORPHA:131 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:778 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP HPO ORPHA:69665 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G PKLR pyruvate kinase L/R IAGP HPO MIM:266200 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:620367 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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 TPI1 triosephosphate isomerase 1 IAGP HPO MIM:615512 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948
JBrowse link
Cholelithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO MIM:605479 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:611465 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
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 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 ALAS2 5'-aminolevulinate synthase 2 IAGP HPO MIM:300752 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO MIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G ANK1 ankyrin 1 IAGP HPO MIM:182900 ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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 ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO MIM:211600 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
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 BLVRA biliverdin reductase A IAGP HPO MIM:614156 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342
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 CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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 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 CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DMPK DM1 protein kinase IAGP HPO MIM:160900 NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552
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 EPB41 erythrocyte membrane protein band 4.1 IAGP HPO ORPHA:288 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G FECH ferrochelatase IAGP HPO MIM:177000 ORPHA:79278 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732
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