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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal digit morphology
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Accession:HP:0011297 term browser browse the term
Definition:A morphological abnormality of a digit, i.e., of a finger or toe.
Synonyms:exact_synonym: Abnormality of digit;   Abnormality of fingers or toes;   Digital anomalies
 xref: UMLS:C3550704



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Abnormal digit morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELN elastin IAGP ClinVar Annotator: match by term: Abnormality of digit ClinVar PMID:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:208441 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GLMN glomulin, FKBP associated protein IAGP ORPHA:83454 HPO NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:300831 HPO NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human) RGD PMID:19461659 RGD:11535951 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
1-2 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP OMIM:301044 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
1-3 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP OMIM:175700 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
1-5 finger complete cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
1-5 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 ORPHA:93405 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93405 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
1-5 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP OMIM:174700 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
2-3 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G FANCF FA complementation group F IAGP OMIM:603467 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP OMIM:149730 HPO NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:149730 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: 2-3 finger syndactyly ClinVar PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:3152 HPO NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G PITX1 paired like homeodomain 1 IAGP OMIM:186550 HPO NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SOST sclerostin IAGP OMIM:269500 ORPHA:3152 HPO NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP OMIM:217085 ORPHA:1338 HPO NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
2-3 toe cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP OMIM:300166 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP OMIM:614756 HPO NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP OMIM:300260 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G NECTIN4 nectin cell adhesion molecule 4 IAGP OMIM:613573 HPO NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558
JBrowse link
G RPL10 ribosomal protein L10 IAGP OMIM:300998 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
2-3 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP ORPHA:777 HPO NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G ADCY9 adenylate cyclase 9 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:3,953,387...4,116,442
Ensembl chr16:3,953,387...4,116,442
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ORPHA:404448 HPO NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AGTR2 angiotensin II receptor type 2 IAGP ORPHA:777 HPO NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ORPHA:777 HPO NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G AP1G1 adaptor related protein complex 1 subunit gamma 1 IAGP OMIM:619467 HPO NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ORPHA:821 HPO NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G ARCN1 archain 1 IAGP OMIM:617164 HPO NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ORPHA:777 HPO NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932
JBrowse link
G ARX aristaless related homeobox IAGP ORPHA:777 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP OMIM:615984 HPO NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
JBrowse link
G BCOR BCL6 corepressor IAGP OMIM:300166 ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:157801 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:112600 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CDC45 cell division cycle 45 IAGP OMIM:617063 HPO NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CEP55 centrosomal protein 55 IAGP OMIM:236500 HPO NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092
JBrowse link
G CERT1 ceramide transporter 1 IAGP OMIM:616351 HPO NCBI chr 5:75,368,486...75,511,981
Ensembl chr 5:75,356,345...75,512,138
JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP OMIM:610313 HPO NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP ORPHA:777 HPO NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ORPHA:777 HPO NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP OMIM:618608 HPO NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993
JBrowse link
G CORO7 coronin 7 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705
JBrowse link
G CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP OMIM:618870 HPO NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
JBrowse link
G CTCF CCCTC-binding factor IAGP ORPHA:363611 HPO NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G DDX11 DEAD/H-box helicase 11 IAGP OMIM:613398 HPO NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP OMIM:618653 HPO NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 ORPHA:818
ClinVar Annotator: match by term: Webbed 2nd and 3rd toes
ClinVar Annotator: match by term: 2-3 toe syndactyly
HPO
ClinVar
PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 IAGP ORPHA:777 HPO NCBI chr  X:70,444,835...70,505,490
Ensembl chr  X:70,444,835...70,505,490
JBrowse link
G DMD dystrophin IAGP ORPHA:777 HPO NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,425,868...4,456,775
Ensembl chr16:4,425,805...4,456,775
JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP OMIM:300960 ORPHA:401973 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP OMIM:618914 HPO NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP OMIM:618156 HPO NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:123150 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:123150 ORPHA:1540 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP ORPHA:777 HPO NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ORPHA:777 HPO NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ORPHA:777 HPO NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G GLIS2 GLIS family zinc finger 2 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597
JBrowse link
G GLIS2-AS1 GLIS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,324,648...4,328,340
Ensembl chr16:4,324,667...4,328,340
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP OMIM:269921 ORPHA:3166 HPO NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Webbed 2nd and 3rd toes ClinVar PMID:25741868 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G HCFC1 host cell factor C1 IAGP ORPHA:777 HPO NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G HEPHL1 hephaestin like 1 IAGP OMIM:261990 HPO NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT172 intraflagellar transport 172 IAGP OMIM:619471 HPO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT43 intraflagellar transport 43 IAGP OMIM:617866 HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP OMIM:614188 HPO NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP ORPHA:777 HPO NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ORPHA:777 HPO NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP ORPHA:37553 HPO NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ORPHA:37553 HPO NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP OMIM:181270 HPO NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G LINC01569 long intergenic non-protein coding RNA 1569 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,245,825...4,253,789
Ensembl chr16:4,243,943...4,253,847
JBrowse link
G LINC02861 long intergenic non-protein coding RNA 2861 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:3,947,609...3,950,444
Ensembl chr16:3,930,806...3,950,586
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LOC121530613 Sharpr-MPRA regulatory region 7928 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,183,828...4,184,122 JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ORPHA:397941 HPO NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:777 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:777 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MED25 mediator complex subunit 25 IAGP ORPHA:464738 HPO NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G MEIS2 Meis homeobox 2 IAGP OMIM:600987 HPO NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
JBrowse link
G MID2 midline 2 IAGP ORPHA:777 HPO NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,931,637
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP OMIM:617201 HPO NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP OMIM:122470 HPO NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G NOG noggin IAGP OMIM:186500 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:821 HPO NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP ORPHA:777 HPO NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361
JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607
JBrowse link
G PDE6D phosphodiesterase 6D IAGP OMIM:615665 HPO NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,975,149...78,029,515
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 HPO NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G PTCHD1 patched domain containing 1 IAGP ORPHA:777 HPO NCBI chr  X:23,334,396...23,404,374
Ensembl chr  X:23,334,849...23,404,374
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508498 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ORPHA:777 HPO NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491
JBrowse link
G RAD21 RAD21 cohesin complex component IAGP OMIM:614701 HPO NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ORPHA:477817 HPO NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RALA RAS like proto-oncogene A IAGP OMIM:619311 HPO NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP OMIM:614814 HPO NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:777 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
G SATB1 SATB homeobox 1 IAGP OMIM:619229 HPO NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,588
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ORPHA:821 HPO NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SETD5 SET domain containing 5 IAGP ORPHA:404440 HPO NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP OMIM:606232 HPO NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP OMIM:619121 HPO NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935
JBrowse link
G SIK3 SIK family kinase 3 IAGP OMIM:618162 HPO NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP OMIM:619080 HPO NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP OMIM:218000 HPO NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP ORPHA:777 HPO NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118
JBrowse link
G SMAD4 SMAD family member 4 IAGP OMIM:139210 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP ORPHA:313892 HPO NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G SRL sarcalumenin IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,189,374...4,242,080
Ensembl chr16:4,189,374...4,242,080
JBrowse link
G STAG1 stromal antigen 1 IAGP ORPHA:502434 HPO NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403
JBrowse link
G STEEP1 STING1 ER exit protein 1 IAGP ORPHA:777 HPO NCBI chr  X:119,538,149...119,565,409
Ensembl chr  X:119,538,149...119,565,409
JBrowse link
G SYP synaptophysin IAGP ORPHA:777 HPO NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218
JBrowse link
G SYT1 synaptotagmin 1 IAGP ORPHA:522077 HPO NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
JBrowse link
G TBCK TBC1 domain containing kinase IAGP ORPHA:488632 HPO NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TFAP4 transcription factor AP-4 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,257,186...4,273,023
Ensembl chr16:4,257,186...4,273,075
JBrowse link
G TP63 tumor protein p63 IAGP OMIM:106260 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRAP1 TNF receptor associated protein 1 IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:3,658,037...3,717,524
Ensembl chr16:3,651,639...3,717,553
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP OMIM:617061 ORPHA:476126 HPO NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP OMIM:616539 HPO NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170
JBrowse link
G TSPAN7 tetraspanin 7 IAGP ORPHA:777 HPO NCBI chr  X:38,561,542...38,688,918
Ensembl chr  X:38,561,542...38,688,920
JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP ORPHA:391307 HPO NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185
JBrowse link
G TXNL4A thioredoxin like 4A IAGP OMIM:608572 HPO NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP OMIM:300860 HPO NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP ORPHA:777 HPO NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,805,311...119,852,998
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ORPHA:777 HPO NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ORPHA:777 HPO NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VASN vasorin IAGP ClinVar Annotator: match by term: 2-3 toe syndactyly ClinVar PMID:25741868 NCBI chr16:4,371,848...4,383,538
Ensembl chr16:4,371,848...4,383,538
JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP OMIM:618659 HPO NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519
JBrowse link
G ZNF41 zinc finger protein 41 IAGP ORPHA:777 HPO NCBI chr  X:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222
JBrowse link
G ZNF711 zinc finger protein 711 IAGP ORPHA:777 HPO NCBI chr  X:85,243,991...85,273,357
Ensembl chr  X:85,243,991...85,273,362
JBrowse link
G ZNF81 zinc finger protein 81 IAGP ORPHA:777 HPO NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561
JBrowse link
2-4 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
2-4 toe cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMTA1 calmodulin binding transcription activator 1 IAGP OMIM:614756 HPO NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ORPHA:268261 HPO NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:257850 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G SVBP small vasohibin binding protein IAGP OMIM:618569 HPO NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
JBrowse link
2-4 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKAP2L cytoskeleton associated protein 2 like IAGP OMIM:272440 HPO NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ORPHA:276280 HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
2-5 finger cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP OMIM:619339 HPO NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
JBrowse link
2-5 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTTN rotatin IAGP ORPHA:468631 HPO NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
JBrowse link
2nd-5th toe middle phalangeal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
3-4 finger cutaneous syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP OMIM:616268 HPO NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP OMIM:181270 HPO NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:69085 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
3-4 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP OMIM:609432 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:174700 OMIM:175700 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000 ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
G TMEM53 transmembrane protein 53 IAGP OMIM:619727 HPO NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481
JBrowse link
3-4 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G RHOA ras homolog family member A IAGP OMIM:618727 HPO NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
4-5 finger syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 OMIM:186100 OMIM:257850
ClinVar Annotator: match by term: Webbed 4th-5th finger
HPO
ClinVar
PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G RTTN rotatin IAGP ORPHA:468631 HPO NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
JBrowse link
4-5 toe syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP OMIM:251255 HPO NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TELO2 telomere maintenance 2 IAGP ORPHA:488642 HPO NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
JBrowse link
Abnormal distal phalanx morphology of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:2725 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP ORPHA:1387 HPO NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ORPHA:1387 HPO NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
Abnormal epiphysis morphology of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:619248 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Abnormal finger flexion creases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP OMIM:210600 HPO NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:615298 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Abnormal finger phalanx morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP DNA:missense mutation:cds:c.1195C>T(human)
DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
RGD PMID:20683927 PMID:23812741 RGD:12437076, RGD:12437083 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Abnormal fingertip morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD1 chromodomain helicase DNA binding protein 1 IAGP ORPHA:529965 HPO NCBI chr 5:98,853,985...98,929,007
Ensembl chr 5:98,853,985...98,929,007
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:missense mutation:cds:p.K173N RGD PMID:15135176 RGD:12798510 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP ORPHA:79404 HPO NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP ORPHA:79404 HPO NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP ORPHA:79404 HPO NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:79106 HPO NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:90154 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Abnormal phalangeal joint morphology of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP ORPHA:498359 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
Abnormal proximal phalanx morphology of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein IAGP ORPHA:353277 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G EP300 E1A binding protein p300 IAGP ORPHA:353284 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
Abnormal thumb morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2639 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ORPHA:324410 HPO NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Abnormality of the thumb ClinVar PMID:25741868 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Abnormality of the thumb ClinVar PMID:25741868 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FANCG FA complementation group G IAGP OMIM:614082 HPO NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ORPHA:500095 HPO NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G FLNB filamin B IAGP DNA:mutations:cds: RGD PMID:27048506 RGD:12791024 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2639 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:93932 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ORPHA:67036 HPO NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ORPHA:1452 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SPART spartin IAGP ORPHA:101000 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: Abnormality of the thumbs ClinVar NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Abnormality of finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP ORPHA:306674 HPO NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP ORPHA:811 HPO NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP ORPHA:811 HPO NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G HOXD13 homeobox D13 IAGP ClinVar Annotator: match by term: Abnormality of finger ClinVar PMID:25741868 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP ORPHA:559 HPO NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ORPHA:811 HPO NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,586
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ORPHA:559 HPO NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:811 HPO NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
Abnormality of the 5th toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 IAGP ORPHA:217266 HPO NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
JBrowse link
Abnormality of the distal phalanx of the thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP ORPHA:453521 HPO NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
JBrowse link
Abnormality of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP ORPHA:456312 HPO NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
JBrowse link
Abnormality of toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:216100 HPO NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:163200 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ORPHA:459033 HPO NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP ORPHA:94065 HPO NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
Absent distal interphalangeal creases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:108120 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
Absent distal phalanges term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP OMIM:619339 HPO NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP OMIM:618658 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G NOG noggin IAGP OMIM:186500 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP OMIM:612289 HPO NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP OMIM:610168 HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
Absent distal phalanx of the 2nd toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP OMIM:618658 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
Absent epiphyses of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Absent fourth finger distal interphalangeal crease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBBP8 RB binding protein 8, endonuclease IAGP OMIM:251255 HPO NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
Absent hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Absent middle phalanx of 2nd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
Absent middle phalanx of 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP OMIM:124480 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:186100 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
Absent phalangeal crease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP ORPHA:230851 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:618469 HPO NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NOG noggin IAGP OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:108145 HPO NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP OMIM:601680 HPO NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
Absent proximal finger flexion creases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP OMIM:186500 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
Absent proximal phalanx of thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 IAGP OMIM:149730 HPO NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:149730 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:149730 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
Absent thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ORPHA:124 HPO NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G CUL3 cullin 3 IAGP OMIM:619239 HPO NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP OMIM:615272 HPO 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 OMIM:227650 HPO 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 OMIM:300514 HPO 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 OMIM:227645 HPO 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 OMIM:227646 HPO 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 OMIM:600901 HPO 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 OMIM:603467 HPO NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCI FA complementation group I IAGP OMIM:609053 HPO 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 OMIM:614083 HPO NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ORPHA:2363 HPO NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:2363 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:2363 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GATA1 GATA binding protein 1 IAGP ORPHA:124 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 HPO NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G RAD51C RAD51 paralog C IAGP OMIM:613390 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:266280 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP OMIM:617784 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP OMIM:263650 ORPHA:1234 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G RPL11 ribosomal protein L11 IAGP ORPHA:124 HPO NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL15 ribosomal protein L15 IAGP ORPHA:124 HPO NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
JBrowse link
G RPL18 ribosomal protein L18 IAGP ORPHA:124 HPO NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
G RPL26 ribosomal protein L26 IAGP ORPHA:124 HPO NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL27 ribosomal protein L27 IAGP ORPHA:124 HPO NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
JBrowse link
G RPL31 ribosomal protein L31 IAGP ORPHA:124 HPO NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
JBrowse link
G RPL35 ribosomal protein L35 IAGP ORPHA:124 HPO NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
JBrowse link
G RPL35A ribosomal protein L35a IAGP ORPHA:124 HPO NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
JBrowse link
G RPL5 ribosomal protein L5 IAGP ORPHA:124 HPO NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
JBrowse link
G RPS10 ribosomal protein S10 IAGP ORPHA:124 HPO NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
JBrowse link
G RPS15A ribosomal protein S15a IAGP ORPHA:124 HPO NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
JBrowse link
G RPS17 ribosomal protein S17 IAGP ORPHA:124 HPO NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
JBrowse link
G RPS19 ribosomal protein S19 IAGP ORPHA:124 HPO NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RPS20 ribosomal protein S20 IAGP ORPHA:124 HPO NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RPS24 ribosomal protein S24 IAGP ORPHA:124 HPO NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS26 ribosomal protein S26 IAGP ORPHA:124 HPO NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS27 ribosomal protein S27 IAGP ORPHA:124 HPO NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
JBrowse link
G RPS28 ribosomal protein S28 IAGP ORPHA:124 HPO NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G RPS29 ribosomal protein S29 IAGP ORPHA:124 HPO NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
JBrowse link
G RPS7 ribosomal protein S7 IAGP ORPHA:124 HPO NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
JBrowse link
G RSPO2 R-spondin 2 IAGP OMIM:618022 HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 OMIM:607323
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X
HPO
RGD
PMID:12843316 RGD:11556209 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP OMIM:154400 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP OMIM:613951 HPO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SON SON DNA and RNA binding protein IAGP ORPHA:500150 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 ORPHA:392 HPO NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ORPHA:124 HPO NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP OMIM:617247 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Absent toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 IAGP ORPHA:974 HPO NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP ORPHA:974 HPO NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ORPHA:974 HPO NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP ORPHA:974 HPO NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:228900 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G NOTCH1 notch receptor 1 IAGP ORPHA:974 HPO NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP OMIM:614814 ORPHA:974 HPO NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
Acroosteolysis of distal phalanges (feet) term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP OMIM:248370 ORPHA:280365 ORPHA:90153 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MTX2 metaxin 2 IAGP ORPHA:90153 HPO NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP OMIM:608612 ORPHA:90154 HPO NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Adactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK1 NIMA related kinase 1 IAGP ORPHA:2751 HPO NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
Adducted thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ORPHA:388 HPO NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP ORPHA:171430 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP OMIM:616503 HPO NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP OMIM:219150 OMIM:616603 ORPHA:90348 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ORPHA:324422 HPO NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP OMIM:601110 HPO NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP OMIM:616681 HPO NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP OMIM:612936 HPO NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP OMIM:618011 HPO NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:388 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:536467 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP OMIM:617822 HPO NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP OMIM:618167 HPO NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP OMIM:601776 HPO NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP OMIM:608779 HPO NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:536516 HPO NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ORPHA:75840 HPO NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ORPHA:75840 HPO NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ORPHA:75840 HPO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G CREBBP CREB binding protein IAGP ORPHA:353277 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP OMIM:272430 HPO NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP OMIM:614643 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G DSE dermatan sulfate epimerase IAGP OMIM:615539 HPO NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP ORPHA:388 HPO NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP OMIM:615065 HPO NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
JBrowse link
G EDN3 endothelin 3 IAGP ORPHA:388 HPO NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
JBrowse link
G EDNRB endothelin receptor type B IAGP ORPHA:388 HPO NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP ORPHA:904 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EP300 E1A binding protein p300 IAGP ORPHA:353284 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPB41L1 erythrocyte membrane protein band 4.1 like 1 IAGP OMIM:614257 HPO NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ORPHA:388 HPO NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP ORPHA:388 HPO NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP OMIM:610758 HPO NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G EXOSC9 exosome component 9 IAGP OMIM:618065 HPO NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
JBrowse link
G FBLN5 fibulin 5 IAGP ORPHA:90348 HPO NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:284979 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP OMIM:121050 HPO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP ORPHA:388 HPO NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ORPHA:2570 HPO NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735
JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP ORPHA:89844 HPO NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP OMIM:611816 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KLHL40 kelch like family member 40 IAGP ORPHA:171430 HPO NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544
JBrowse link
G KLHL41 kelch like family member 41 IAGP ORPHA:171430 HPO NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP OMIM:303350 OMIM:307000 ORPHA:2182 ORPHA:306617
DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel
HPO
RGD
PMID:7920660 RGD:6483061 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G LAGE3 L antigen family member 3 IAGP ORPHA:2065 HPO NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LMOD3 leiomodin 3 IAGP ORPHA:171430 HPO NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032
JBrowse link
G MED25 mediator complex subunit 25 IAGP ORPHA:464738 HPO NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MSL3 MSL complex subunit 3 IAGP OMIM:301032 HPO NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772
JBrowse link
G MYBPC1 myosin binding protein C1 IAGP ORPHA:1146 HPO NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:193700 ORPHA:1146 ORPHA:1147 HPO NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYL11 myosin light chain 11 IAGP OMIM:619110 HPO NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
JBrowse link
G NALCN sodium leak channel, non-selective IAGP OMIM:616266 ORPHA:1146 ORPHA:1147 HPO NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:89844 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G NEB nebulin IAGP OMIM:619334 HPO NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G NEK9 NIMA related kinase 9 IAGP OMIM:617022 HPO NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NRTN neurturin IAGP ORPHA:388 HPO NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324
JBrowse link
G NUP107 nucleoporin 107 IAGP ORPHA:2065 HPO NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G NUP133 nucleoporin 133 IAGP ORPHA:2065 HPO NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ORPHA:2065 HPO NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP OMIM:618371 HPO NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:601815 ORPHA:79351 HPO NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G RELN reelin IAGP ORPHA:89844 HPO NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
JBrowse link
G RET ret proto-oncogene IAGP ORPHA:388 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RFT1 RFT1 homolog IAGP OMIM:612015 HPO NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SEMA3C semaphorin 3C IAGP ORPHA:388 HPO NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359
JBrowse link
G SEMA3D semaphorin 3D IAGP ORPHA:388 HPO NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP OMIM:619121 HPO NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935
JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP OMIM:300243 ORPHA:85278 HPO NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269
JBrowse link
G SMO smoothened, frizzled class receptor IAGP ORPHA:388 HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP OMIM:618622 HPO NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP ORPHA:388 HPO NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP ORPHA:412057 HPO NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP OMIM:618484 HPO NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP OMIM:616897 HPO NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ORPHA:1146 ORPHA:1147 HPO NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP OMIM:618435 ORPHA:1146 ORPHA:1147 HPO NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TOR1A torsin family 1 member A IAGP OMIM:618947 HPO NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
JBrowse link
G TP53RK TP53 regulating kinase IAGP ORPHA:2065 HPO NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:108120 ORPHA:1146 ORPHA:1147 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TPRKB TP53RK binding protein IAGP ORPHA:2065 HPO NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WDR4 WD repeat domain 4 IAGP ORPHA:2065 HPO NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G WDR73 WD repeat domain 73 IAGP ORPHA:2065 HPO NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ORPHA:261552 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Aphalangy of the hands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
Aplasia of the 1st metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCD2 FA complementation group D2 IAGP OMIM:227646 HPO NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:93321 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:93321 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP ORPHA:476126 HPO NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP OMIM:617247 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Aplasia of the 3rd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EN1 engrailed homeobox 1 IAGP OMIM:619218 HPO NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648
JBrowse link
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
Aplasia of the 4th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
Aplasia of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
Aplasia of the distal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
Aplasia of the distal phalanx of the 2nd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
Aplasia of the distal phalanx of the 5th toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP OMIM:618658 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
Aplasia of the distal phalanx of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
Aplasia of the middle phalanges of the toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2098 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2098 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Aplasia of the middle phalanx of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP OMIM:610140 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP OMIM:614976 HPO NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
Aplasia of the phalanges of the 3rd toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP ORPHA:2229 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
Aplasia of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
Aplasia of the proximal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
Aplasia/Hypoplasia of fingers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ORPHA:84 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:84 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ORPHA:84 HPO NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO 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 ORPHA:84 HPO NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ORPHA:84 HPO NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP ORPHA:84 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ORPHA:84 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ORPHA:84 HPO NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Aplasia/Hypoplasia of the 1st metacarpal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:93384 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Aplasia/Hypoplasia of the 3rd toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ORPHA:857 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 ORPHA:857 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
Aplasia/Hypoplasia of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7A Wnt family member 7A IAGP OMIM:228930 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Aplasia/Hypoplasia of the distal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A IAGP OMIM:614607 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G NOG noggin IAGP OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human)
OMIM:113000
HPO
RGD
PMID:23238279 RGD:11537345 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP OMIM:614608 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
Aplasia/Hypoplasia of the distal phalanges of the toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 IAGP ORPHA:2662 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G NOG noggin IAGP OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ORPHA:1234 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:113000 HPO NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
Aplasia/Hypoplasia of the distal phalanx of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP ORPHA:93387 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G PTHLH parathyroid hormone like hormone IAGP ORPHA:93387 HPO NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
JBrowse link
Aplasia/Hypoplasia of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP OMIM:609432 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
Aplasia/Hypoplasia of the middle phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:157801 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ORPHA:2710 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G NOG noggin IAGP OMIM:185800 OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP OMIM:151050 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
Aplasia/Hypoplasia of the middle phalanges of the toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP OMIM:185800 OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP OMIM:609432 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 ORPHA:93396 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:112600 OMIM:616849 ORPHA:93396 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 ORPHA:93396 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
Aplasia/Hypoplasia of the middle phalanx of the 5th finger term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP OMIM:609432 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:112600 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
Aplasia/Hypoplasia of the phalanges of the 2nd toe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ORPHA:79500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
Aplasia/Hypoplasia of the phalanges of the hallux term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP ORPHA:337 HPO NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
Aplasia/Hypoplasia of the phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP OMIM:219000 HPO NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:3474 HPO NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP DNA:deletion:exon:c.1396-1398delAA, (human) RGD PMID:24954533 RGD:11535953 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G TP63 tumor protein p63 IAGP OMIM:605289 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 OMIM:276820 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Aplasia/Hypoplasia of the phalanges of the thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP ORPHA:556955 HPO NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
JBrowse link
Aplasia/Hypoplasia of the phalanges of the toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:3474 HPO NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G TP63 tumor protein p63 IAGP OMIM:605289 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:276820 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Aplasia/Hypoplasia of the thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP OMIM:609432 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:2098 HPO NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CHN1 chimerin 1 IAGP ORPHA:233 HPO NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP ORPHA:3103 HPO NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:93258 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:87 ORPHA:93258 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP OMIM:219000 HPO NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:2098 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:235 HPO NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:2378 ORPHA:988 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:233 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP ORPHA:235 HPO NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:570 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ORPHA:1587 HPO NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 ORPHA:1225 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP ORPHA:570 HPO NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:233 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP OMIM:154400 ORPHA:245 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:988 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:1896 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP OMIM:617602 HPO NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP ORPHA:91387 HPO NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP ORPHA:2604 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G AEBP1 AE binding protein 1 IAGP ORPHA:536532 HPO NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP OMIM:619036 HPO NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP OMIM:300373 HPO NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP OMIM:615485 ORPHA:352577 HPO NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:2725 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP OMIM:130070 ORPHA:75496 HPO NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ORPHA:261330 HPO NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP OMIM:614856 HPO NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ORPHA:243 HPO NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
JBrowse link
G BNC1 basonuclin 1 IAGP ORPHA:243 HPO NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
JBrowse link
G C1R complement C1r IAGP OMIM:130080 HPO NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G CBS cystathionine beta-synthase IAGP OMIM:236200 ORPHA:394 HPO NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP OMIM:265000 HPO NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP OMIM:601776 HPO NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G CNTN1 contactin 1 IAGP OMIM:612540 HPO NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:604841 HPO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:108300 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CPLX1 complexin 1 IAGP ORPHA:280 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP ORPHA:261330 HPO NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,249,953
JBrowse link
G CTSC cathepsin C IAGP OMIM:245010 ORPHA:678 HPO NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP OMIM:614416 HPO NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP OMIM:618793 HPO NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ORPHA:86309 HPO NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G DSE dermatan sulfate epimerase IAGP OMIM:615539 HPO NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP OMIM:614437 HPO NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G ELN elastin IAGP ORPHA:91387 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP OMIM:619013 HPO NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FBLN5 fibulin 5 IAGP OMIM:219100 HPO NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:154700 OMIM:604308 OMIM:616914 ORPHA:2462 ORPHA:284979 ORPHA:91387
ClinVar Annotator: match by term: Arachnodactyly
ClinVar Annotator: match by term: Long slender fingers
DNA:missense mutation:exon:p.C596G (c.1786T>G)
HPO
ClinVar
RGD
PMID:7611299 PMID:8040326 PMID:8541880 PMID:8791520 PMID:8894692 More... RGD:12910134 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP OMIM:121050 ORPHA:115 HPO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:207410 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:610474 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP OMIM:305620 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FOXE3 forkhead box E3 IAGP ORPHA:91387 HPO NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ORPHA:243 HPO NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP ORPHA:457359 HPO NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP ORPHA:91387 HPO NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP OMIM:300986 HPO NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ORPHA:363965 HPO NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Arachnodactyly ClinVar PMID:25741868 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G LAGE3 L antigen family member 3 IAGP OMIM:301006 HPO NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LOX lysyl oxidase IAGP ORPHA:91387 HPO NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ORPHA:261330 HPO NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP ORPHA:91387 HPO NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:309520 ORPHA:776 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MFAP5 microfibril associated protein 5 IAGP OMIM:616166 ORPHA:91387 HPO NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ORPHA:243 HPO NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MTM1 myotubularin 1 IAGP OMIM:310400 HPO NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ORPHA:91387 HPO NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYLK myosin light chain kinase IAGP ORPHA:91387 HPO NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G NALCN sodium leak channel, non-selective IAGP ORPHA:371364 HPO NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP OMIM:619092 HPO NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
JBrowse link
G NELFA negative elongation factor complex member A IAGP ORPHA:280 HPO NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NKAP NFKB activating protein IAGP OMIM:301039 HPO NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:615923 HPO NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP OMIM:619543 HPO NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ORPHA:243 HPO NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ORPHA:280 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar PMID:25741868 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G NUP107 nucleoporin 107 IAGP OMIM:616730 OMIM:618348 ORPHA:243 HPO NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP OMIM:617729 HPO NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP ORPHA:505237 HPO NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
JBrowse link
G PAPPA2 pappalysin 2 IAGP OMIM:619489 HPO NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601
JBrowse link
G PEPD peptidase D IAGP ORPHA:742 HPO NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,791
JBrowse link
G PHF8 PHD finger protein 8 IAGP OMIM:300263 HPO NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:108145 OMIM:248700 OMIM:617146 ORPHA:1154 ORPHA:2461 HPO NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ORPHA:280 HPO NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G