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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:Aplasia/hypoplasia involving bones of the hand
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Accession:HP:0005927 term browser browse the term
Definition:Absence (due to failure to form) or underdevelopment of the bones of the hand.
Synonyms:exact_synonym: Absent/small hand bones;   Absent/underdeveloped hand bones;   Hypoplasia/absence of hand bones
 xref: UMLS:C4021612


show annotations for term's descendants           Sort by:
 
Absent hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 IAGP ORPHA:974 HPO NCBI chr 3:119,294,289...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G BTRC beta-transducin repeat containing E3 ubiquitin protein ligase IAGP ORPHA:2440 HPO NCBI chr10:101,353,808...101,557,313
Ensembl chr10:101,354,033...101,557,321
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 DLX5 distal-less homeobox 5 IAGP ORPHA:2440 HPO NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
JBrowse link
G DLX6 distal-less homeobox 6 IAGP ORPHA:2440 HPO NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040
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 3:68,975,220...69,013,961
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 IAGP ORPHA:2440 HPO NCBI chr19:16,355,244...16,472,012
Ensembl chr19:16,355,239...16,472,085
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ORPHA:464 HPO NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 ORPHA:931 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 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 RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP ORPHA:974 HPO NCBI chr 4:26,163,458...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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 SEM1 SEM1 26S proteasome subunit IAGP ORPHA:2440 HPO NCBI chr 7:96,481,626...96,709,846
Ensembl chr 7:96,481,626...96,709,891
JBrowse link
G TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TP63 tumor protein p63 IAGP ORPHA:2440 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G WNT10B Wnt family member 10B IAGP ORPHA:2440 HPO NCBI chr12:48,965,340...48,979,587
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Absent middle phalanx of 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 proximal phalanx of thumb term browser
Symbol Object Name 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...44,389,706
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...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
Absent scaphoid term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ORPHA:124 HPO NCBI chr22:17,178,790...17,221,854
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 chr16:13,920,137...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 chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP OMIM:300514 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,730
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...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FANCI FA complementation group I IAGP OMIM:609053 HPO NCBI chr15:89,243,973...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...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ORPHA:2363 HPO NCBI chr 5:44,300,247...44,389,706
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...1,808,872
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...109,825,431
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:48,786,562...48,794,311
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 HPO NCBI chr17:67,337,916...67,366,598
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G RAD51C RAD51 paralog C IAGP OMIM:613390 HPO NCBI chr17:58,692,140...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 chr16:74,621,396...74,666,892
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 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...108,083,680
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 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 chr16:3,579,653...3,611,639
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...114,408,708
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 ZBTB16 zinc finger and BTB domain containing 16 IAGP OMIM:612447 HPO NCBI chr11:114,059,576...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Adactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOLK dolichol kinase IAGP ORPHA:91131 HPO NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603
JBrowse link
G NEK1 NIMA related kinase 1 IAGP ORPHA:2751 HPO NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,809...169,612,627
JBrowse link
Aplasia of metacarpal bones term browser
Symbol Object Name 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
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
G SALL4 spalt like transcription factor 4 IAGP OMIM:607323 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
Aplasia of the 1st metacarpal term browser
Symbol Object Name 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...109,825,431
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
Aplasia of the 2nd metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Aplasia of the 3rd finger term browser
Symbol Object Name 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
Aplasia of the 4th metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Aplasia of the distal phalanges of the hand term browser
Symbol Object Name 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...109,825,431
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 phalanx of the hand term browser
Symbol Object Name 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 proximal phalanges of the hand term browser
Symbol Object Name 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...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
Aplasia/Hypoplasia involving the carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 involving the metacarpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 ORPHA:2098 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:200700 ORPHA:2098 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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 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 ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,598...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 fingers term browser
Symbol Object Name 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...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:84 HPO NCBI chr16:13,920,137...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 chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP ORPHA:84 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCC FA complementation group C IAGP ORPHA:84 HPO NCBI chr 9:95,099,054...95,317,730
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...35,467,106
Ensembl chr 6:35,452,338...35,467,102
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...35,079,942
JBrowse link
G FANCI FA complementation group I IAGP ORPHA:84 HPO NCBI chr15:89,243,973...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...58,241,681
Ensembl chr 2:58,159,243...58,241,372
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...11,691,559
Ensembl chr 1:11,674,480...11,691,650
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ORPHA:84 HPO NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:84 HPO NCBI chr15:40,694,774...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP ORPHA:84 HPO NCBI chr17:58,692,140...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 chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ORPHA:84 HPO NCBI chr16:3,579,653...3,611,639
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 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...95,158,453
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 5th finger term browser
Symbol Object Name 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 thumb term browser
Symbol Object Name 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...95,158,453
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 8:27,771,949...27,812,430
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:3332 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:3332 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
Carpal bone aplasia term browser
Symbol Object Name 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
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
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
Carpal bone hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP OMIM:601162 HPO NCBI chr10:95,605,938...95,656,901
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G EXOC6B exocyst complex component 6B IAGP OMIM:618395 HPO NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP OMIM:252500 OMIM:252600 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G KIF22 kinesin family member 22 IAGP OMIM:603546 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,719...29,805,384
JBrowse link
G NANS N-acetylneuraminate synthase IAGP OMIM:610442 HPO NCBI chr 9:98,056,728...98,083,083
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:184252 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Cuboidal metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 ORPHA:968 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Hand monodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:1986 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G SEMA3E semaphorin 3E IAGP OMIM:214800 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
JBrowse link
Hand oligodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 IAGP OMIM:183600 HPO NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
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 PORCN porcupine O-acyltransferase IAGP OMIM:305600 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:1225 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ORPHA:1788 HPO NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP OMIM:206920 ORPHA:1106 HPO NCBI chr14:69,879,388...70,032,366
Ensembl chr14:69,854,131...70,032,366
JBrowse link
G WNT10B Wnt family member 10B IAGP OMIM:225300 HPO NCBI chr12:48,965,340...48,979,587
Ensembl chr12:48,965,340...48,971,735
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 OMIM:276820 ORPHA:2879 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Long second metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
Proportionate shortening of all digits term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:280633 HPO NCBI chr18:62,041,164...62,187,118
Ensembl chr18:61,905,255...62,187,118
JBrowse link
Short 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP OMIM:135100 HPO NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP OMIM:251450 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
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 FANCI FA complementation group I IAGP OMIM:609053 HPO NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FZD2 frizzled class receptor 2 IAGP OMIM:164745 ORPHA:93328 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 ORPHA:63442 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HDAC8 histone deacetylase 8 IAGP ORPHA:199 HPO NCBI chr  X:72,329,516...72,573,099
Ensembl chr  X:72,329,516...72,573,101
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:140000 ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ORPHA:199 HPO NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
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 NIPBL NIPBL cohesin loading factor IAGP ORPHA:199 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:186570 OMIM:611377 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G RAD21 RAD21 cohesin complex component IAGP ORPHA:199 HPO NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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 SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SETBP1 SET binding protein 1 IAGP OMIM:269150 ORPHA:798 HPO NCBI chr18:44,680,072...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SETD5 SET domain containing 5 IAGP ORPHA:199 HPO NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:199 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP ORPHA:199 HPO NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,695...110,606,048
JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP OMIM:619135 HPO NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
JBrowse link
Short 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 OMIM:113100 OMIM:615298 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GPC3 glypican 3 IAGP ORPHA:373 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
JBrowse link
G GPC4 glypican 4 IAGP ORPHA:373 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G IRX5 iroquois homeobox 5 IAGP OMIM:611174 HPO NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
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
Short 2nd metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP 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 ORPHA:93396 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:93396 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Short 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Short 3rd metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79443 ORPHA:79444 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LBR lamin B receptor IAGP OMIM:169400 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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
Short 4th metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 IAGP OMIM:601390 HPO NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP OMIM:615546 HPO NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP OMIM:606220 HPO NCBI chr13:76,992,597...77,027,164
Ensembl chr13:76,992,598...77,027,195
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP ORPHA:2908 HPO NCBI chr20:6,074,845...6,123,609
Ensembl chr20:6,074,845...6,123,030
JBrowse link
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:146510 ORPHA:672 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79443 ORPHA:79444 ORPHA:79445 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LBR lamin B receptor IAGP OMIM:169400 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP OMIM:618143 HPO NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
JBrowse link
G PTCH1 patched 1 IAGP OMIM:109400 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411
JBrowse link
G SRY sex determining region Y IAGP ORPHA:1772 HPO NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,972...102,633,535
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
Short 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A IAGP ORPHA:1465 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ORPHA:1465 HPO NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP ORPHA:1465 HPO NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP ORPHA:397590 HPO NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP OMIM:618608 HPO NCBI chr12:70,242,993...70,354,993
Ensembl chr12:70,243,002...70,354,993
JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 IAGP OMIM:619060 HPO NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
JBrowse link
G CUL7 cullin 7 IAGP OMIM:273750 HPO NCBI chr 6:43,037,617...43,053,945
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DPF2 double PHD fingers 2 IAGP ORPHA:1465 HPO NCBI chr11:65,333,840...65,354,262
Ensembl chr11:65,333,852...65,354,262
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP OMIM:305400 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
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
G GNAS GNAS complex locus IAGP ORPHA:79445 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP ORPHA:397590 HPO NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:140000 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G IGF2 insulin like growth factor 2 IAGP ORPHA:397590 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G KDM6A lysine demethylase 6A IAGP OMIM:147920 OMIM:300867 ORPHA:2322 HPO NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP OMIM:147920 ORPHA:2322 HPO NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G MASP1 MBL associated serine protease 1 IAGP OMIM:257920 HPO NCBI chr 3:187,217,282...187,293,529
Ensembl chr 3:187,217,282...187,291,980
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 OBSL1 obscurin like cytoskeletal adaptor 1 IAGP OMIM:612921 HPO NCBI chr 2:219,549,408...219,571,573
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP ORPHA:557003 HPO NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,983
JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP OMIM:618821 HPO NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
JBrowse link
G PLAG1 PLAG1 zinc finger IAGP ORPHA:397590 HPO NCBI chr 8:56,160,909...56,211,327
Ensembl chr 8:56,160,909...56,211,324
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP OMIM:615583 ORPHA:508498 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RAC1 Rac family small GTPase 1 IAGP ORPHA:500159 HPO NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ORPHA:1465 HPO NCBI chr19:10,960,999...11,062,277
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 ORPHA:1465 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 IAGP ORPHA:1465 HPO NCBI chr12:56,162,359...56,189,504
Ensembl chr12:56,162,359...56,189,567
JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP ORPHA:1465 HPO NCBI chr12:50,085,236...50,100,707
Ensembl chr12:50,085,200...50,100,707
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP ORPHA:1465 HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP OMIM:610759 HPO NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,695...110,606,048
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ORPHA:1465 HPO NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP ORPHA:1465 HPO NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP OMIM:220500 HPO NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
Short 5th metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP OMIM:617877 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP ORPHA:2908 HPO NCBI chr20:6,074,845...6,123,609
Ensembl chr20:6,074,845...6,123,030
JBrowse link
G FLNA filamin A IAGP OMIM:311300 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79443 ORPHA:79444 ORPHA:79445 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LBR lamin B receptor IAGP OMIM:169400 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:185800 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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
Short distal phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ORPHA:1517 HPO NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP ORPHA:1855 HPO NCBI chr19:11,574,660...11,578,983
Ensembl chr19:11,574,660...11,579,008
JBrowse link
G ACTL6B actin like 6B IAGP OMIM:618470 HPO NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP ORPHA:974 HPO NCBI chr 3:119,294,289...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ARSL arylsulfatase L IAGP OMIM:302950 HPO NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
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 CCDC22 coiled-coil domain containing 22 IAGP OMIM:300963 HPO NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
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 CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ORPHA:53 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,084
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:618150 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 ORPHA:85166 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP OMIM:615789 HPO NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176
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 CTSK cathepsin K IAGP ORPHA:763 HPO NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP OMIM:250410 HPO NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,768,930...65,018,750
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 DVL1 dishevelled segment polarity protein 1 IAGP OMIM:616331 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EDA ectodysplasin A IAGP ORPHA:181 HPO NCBI chr  X:69,616,086...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ORPHA:181 HPO NCBI chr  X:66,594,384...66,639,303
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP ORPHA:974 HPO NCBI chr 3:68,975,220...69,013,961
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FLNA filamin A IAGP OMIM:309350 OMIM:311300 ORPHA:2484 ORPHA:90650 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP ORPHA:503 HPO 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 OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP OMIM:277450 HPO NCBI chr 2:85,544,720...85,561,527
Ensembl chr 2:85,544,720...85,561,547
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 ORPHA:2662 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G HOXA13 homeobox A13 IAGP ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186300 ORPHA:93387 ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT122 intraflagellar transport 122 IAGP OMIM:218330 ORPHA:1515 HPO NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
JBrowse link
G IFT43 intraflagellar transport 43 IAGP ORPHA:1515 HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP OMIM:617102 ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IFT57 intraflagellar transport 57 IAGP OMIM:617927 HPO NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP OMIM:118450 HPO NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP OMIM:135500 OMIM:611816 ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ORPHA:1517 HPO NCBI chr12:21,764,955...21,775,593
Ensembl chr12:21,764,955...21,775,600
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 KDM5C lysine demethylase 5C IAGP OMIM:300534 HPO NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,191,321...53,225,422
JBrowse link
G LMNA lamin A/C IAGP ORPHA:90153 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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 MCTP2 multiple C2 and transmembrane domain containing 2 IAGP ORPHA:1596 HPO NCBI chr15:94,231,561...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 ORPHA:85202 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP OMIM:616638 HPO NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NFIX nuclear factor I X IAGP OMIM:602535 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NOG noggin IAGP OMIM:184460 OMIM:611377 ORPHA:140908 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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 NOTCH2 notch receptor 2 IAGP ORPHA:955 HPO NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NXN nucleoredoxin IAGP ORPHA:1507 HPO NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP OMIM:618580 HPO NCBI chr15:55,318,939...55,355,648
Ensembl chr15:55,318,960...55,355,648
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP OMIM:614080 ORPHA:2059 HPO NCBI chr18:62,041,164...62,187,118
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP OMIM:618143 HPO NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP OMIM:239300 HPO NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
JBrowse link
G POC1A POC1 centriolar protein A IAGP OMIM:614813 HPO NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G PTHLH parathyroid hormone like hormone IAGP ORPHA:93387 HPO NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP OMIM:614814 ORPHA:974 HPO NCBI chr 4:26,163,458...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ORPHA:1507 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SETBP1 SET binding protein 1 IAGP OMIM:269150 ORPHA:798 HPO NCBI chr18:44,680,072...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP OMIM:612289 ORPHA:2095 ORPHA:2963 HPO NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:619293 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP OMIM:616938 HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP OMIM:615866 HPO NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G STAMBP STAM binding protein IAGP OMIM:614261 HPO NCBI chr 2:73,828,911...73,873,656
Ensembl chr 2:73,828,916...73,873,659
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP OMIM:220500 ORPHA:79500 HPO NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:606835 ORPHA:85169 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G WDR19 WD repeat domain 19 IAGP OMIM:614378 ORPHA:1515 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP OMIM:614091 ORPHA:1515 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP OMIM:259050 HPO NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,288
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:90154 HPO NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Short distal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Short distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79445 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
Short distal phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Short distal phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP OMIM:135900 HPO NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:180860 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
Short distal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79445 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ORPHA:221139 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP ORPHA:221139 HPO NCBI chr 1:9,629,889...9,729,114
Ensembl chr 1:9,651,731...9,729,114
JBrowse link
G PTCH1 patched 1 IAGP OMIM:109400 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
Short finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP OMIM:242500 HPO NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
JBrowse link
G ACAN aggrecan IAGP OMIM:612813 HPO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ORPHA:64 HPO NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP OMIM:242100 HPO NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP OMIM:242100 HPO NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ARX aristaless related homeobox IAGP ORPHA:1934 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ORPHA:333 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP ORPHA:1934 HPO NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ORPHA:1934 HPO NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP OMIM:253290 HPO NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP OMIM:253290 HPO NCBI chr 2:232,526,160...232,537,907
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP OMIM:253290 HPO NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP DNA:missense mutation:exon:p.R704C RGD PMID:9800905 RGD:8657405 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DMXL2 Dmx like 2 IAGP ORPHA:1934 HPO NCBI chr15:51,447,788...51,622,833
Ensembl chr15:51,447,711...51,622,833
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:608328 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ORPHA:1934 HPO NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
JBrowse link
G GNAS GNAS complex locus IAGP OMIM:103580 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G HESX1 HESX homeobox 1 IAGP OMIM:182230 HPO NCBI chr 3:57,197,838...57,227,643
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP ORPHA:1934 HPO NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
JBrowse link
G LMNB2 lamin B2 IAGP OMIM:619180 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP OMIM:614305 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP ORPHA:1934 HPO NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
JBrowse link
G NOG noggin IAGP OMIM:186570 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP OMIM:300209 HPO NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP OMIM:608940 HPO NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP ORPHA:1934 HPO NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ORPHA:1934 HPO NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ORPHA:1934 HPO NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G PORCN porcupine O-acyltransferase IAGP OMIM:305600 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:607095 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
G RPL10 ribosomal protein L10 IAGP ORPHA:459070 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ORPHA:1934 HPO NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ORPHA:1934 HPO NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SIK1 salt inducible kinase 1 IAGP ORPHA:1934 HPO NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ORPHA:1934 HPO NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:222600 ORPHA:628 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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 STXBP1 syntaxin binding protein 1 IAGP ORPHA:1934 HPO NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TBL1XR1 TBL1X receptor 1 IAGP ORPHA:487825 HPO NCBI chr 3:177,019,344...177,197,482
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TCTN3 tectonic family member 3 IAGP OMIM:258860 HPO NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TRIM8 tripartite motif containing 8 IAGP ORPHA:1934 HPO NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,644,479...102,658,318
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190351 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:156530 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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
Short metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,150...111,884,196
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP OMIM:271640 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP OMIM:261540 HPO NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP OMIM:614078 HPO NCBI chr 8:56,957,931...56,993,874
Ensembl chr 8:56,957,931...56,993,867
JBrowse link
G CD96 CD96 molecule IAGP OMIM:211750 HPO NCBI chr 3:111,542,118...111,665,996
Ensembl chr 3:111,292,719...111,665,750
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 ORPHA:263463 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP OMIM:605282 HPO NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:618150 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP OMIM:215150 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 OMIM:609162 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP OMIM:600969 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP OMIM:132400 OMIM:177170 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP OMIM:250410 HPO NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,768,930...65,018,750
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP OMIM:618724 HPO NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:617604 HPO NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G DYM dymeclin IAGP OMIM:223800 OMIM:607326 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP OMIM:133700 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP OMIM:133701 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP ORPHA:508533 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:102370 OMIM:608328 ORPHA:969 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:166250 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP OMIM:108720 OMIM:150250 OMIM:272460 HPO 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 OMIM:228900 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GNAS GNAS complex locus IAGP OMIM:103580 OMIM:603233 OMIM:612462 OMIM:612463 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP OMIM:603233 HPO NCBI chr20:58,818,918...58,850,903
Ensembl chr20:58,818,919...58,850,903
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 ORPHA:93317 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G HDAC4 histone deacetylase 4 IAGP OMIM:600430 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HHAT hedgehog acyltransferase IAGP ORPHA:1422 HPO NCBI chr 1:210,327,873...210,676,298
Ensembl chr 1:210,328,252...210,676,296
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:113300 ORPHA:93387 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT52 intraflagellar transport 52 IAGP OMIM:617102 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IFT80 intraflagellar transport 80 IAGP OMIM:611263 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP OMIM:170390 HPO NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP OMIM:613328 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP OMIM:600373 ORPHA:1458 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ORPHA:969 HPO NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G MATN3 matrilin 3 IAGP OMIM:607078 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP ORPHA:508542 HPO NCBI chr 1:58,654,739...58,700,091
Ensembl chr 1:58,643,440...58,700,077
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP OMIM:618853 HPO NCBI chr 3:113,002,444...113,019,721
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G NHS NHS actin remodeling regulator IAGP ORPHA:627 HPO NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:602875 HPO NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,591...35,809,732
JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP OMIM:610915 HPO NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP OMIM:608940 HPO NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PDE3A phosphodiesterase 3A IAGP OMIM:112410 ORPHA:1276 HPO NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
JBrowse link
G PDE4D phosphodiesterase 4D IAGP OMIM:614613 ORPHA:280651 ORPHA:439822 ORPHA:950 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP ORPHA:773 HPO NCBI chr 6:136,821,683...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ORPHA:773 HPO NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP OMIM:613328 HPO NCBI chr 1:9,629,889...9,729,114
Ensembl chr 1:9,651,731...9,729,114
JBrowse link
G POC1A POC1 centriolar protein A IAGP OMIM:614813 HPO NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PORCN porcupine O-acyltransferase IAGP OMIM:305600 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:101800 ORPHA:280651 ORPHA:950 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP OMIM:617157
ClinVar Annotator: match by term: Shortened long bone of hand
HPO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr16:68,310,982...68,360,876
Ensembl chr16:68,310,974...68,358,584
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:50945 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G PTHLH parathyroid hormone like hormone IAGP OMIM:613382 ORPHA:93387 HPO NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP OMIM:615222 HPO NCBI chr 4:139,453,232...139,476,609
Ensembl chr 4:139,453,232...139,476,609
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP OMIM:212720 HPO NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:221016 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:250460 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
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 OMIM:616651 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP OMIM:303600 ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP OMIM:248800 HPO NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:226900 ORPHA:56304 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP OMIM:612350 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:601358 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP ORPHA:2044 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G STX16 syntaxin 16 IAGP OMIM:603233 HPO NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,253...58,679,526
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190350 OMIM:190351 ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP OMIM:200110 HPO NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP OMIM:216550 HPO NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP OMIM:615777 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
Short metacarpals with rounded proximal ends term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
Short middle phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP OMIM:607932 HPO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 ORPHA:93384 ORPHA:93388 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP OMIM:616835 HPO NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G IFT57 intraflagellar transport 57 IAGP OMIM:617927 HPO NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ORPHA:93388 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KDM6A lysine demethylase 6A IAGP ORPHA:2322 HPO NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP OMIM:605130 HPO NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ORPHA:2322 HPO NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP OMIM:618853 HPO NCBI chr 3:113,002,444...113,019,721
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PDE4D phosphodiesterase 4D IAGP ORPHA:439822 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:113000 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:256050 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:606835 ORPHA:85169 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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
Short middle phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G INTU inturned planar cell polarity protein IAGP OMIM:617926 HPO NCBI chr 4:127,623,271...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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 RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
Short middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Short middle phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP OMIM:616738 HPO NCBI chr 3:169,083,506...169,663,781
Ensembl chr 3:169,083,499...169,663,775
JBrowse link
Short middle phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:180700 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 OMIM:615072 ORPHA:63442 ORPHA:93396 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
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 H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000 ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:180860 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
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 NIN ninein IAGP ORPHA:319675 HPO NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508488 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP OMIM:251255 HPO NCBI chr18:22,914,121...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ORPHA:46627 HPO NCBI chr 6:50,817,692...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G WNT5A Wnt family member 5A IAGP OMIM:180700 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Short palm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ORPHA:2176 HPO NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:93359 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP OMIM:261540 HPO NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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 BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
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 CAMK2G calcium/calmodulin dependent protein kinase II gamma IAGP OMIM:618522 HPO NCBI chr10:73,812,501...73,874,582
Ensembl chr10:73,812,501...73,874,591
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP OMIM:235510 HPO NCBI chr18:59,430,939...59,698,181
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP ORPHA:363417 HPO NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP ORPHA:85172 HPO NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:228520 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP OMIM:215150 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:166011 ORPHA:85166 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP OMIM:600204 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
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 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 CUL4B cullin 4B IAGP ORPHA:85293 HPO NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP OMIM:608799 HPO NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:180700 ORPHA:3107 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP ORPHA:3107 HPO NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:93271 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ORPHA:93271 HPO NCBI chr 7:158,839,245...158,958,695
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ORPHA:93271 HPO NCBI chr 9:128,633,653...128,656,847
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP OMIM:193530 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP OMIM:193530 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G EXOC6B exocyst complex component 6B IAGP ORPHA:93359 HPO NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:102370 OMIM:614185 ORPHA:969 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP OMIM:305400 ORPHA:915 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGF9 fibroblast growth factor 9 IAGP ORPHA:3237 HPO NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:166250 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:93258 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:53271 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP ORPHA:90650 ORPHA:90652 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FZD2 frizzled class receptor 2 IAGP ORPHA:3107 ORPHA:93328 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:3237 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
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 GPX4 glutathione peroxidase 4 IAGP ORPHA:93317 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G HDAC4 histone deacetylase 4 IAGP ORPHA:1001 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDAC6 histone deacetylase 6 IAGP ORPHA:163966 HPO NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP OMIM:176270 HPO NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:93271 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP ORPHA:73273 HPO NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 ORPHA:63446 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP ORPHA:559 HPO NCBI chr17:1,494,575...1,516,735
Ensembl chr17:1,494,577...1,516,742
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP OMIM:258480 HPO NCBI chr11:72,223,861...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP OMIM:176270 HPO NCBI chr15:25,116,545...25,122,476 JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ORPHA:85201 HPO NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP OMIM:170390 HPO NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KDM5C lysine demethylase 5C IAGP ORPHA:85279 HPO NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,191,321...53,225,422
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:3339 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LMNA lamin A/C IAGP ORPHA:79474 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ORPHA:969 HPO NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MAGEL2 MAGE family member L2 IAGP OMIM:176270 HPO NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:3238 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
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 MAPRE2 microtubule associated protein RP/EB family member 2 IAGP OMIM:616734 HPO NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP ORPHA:228402 HPO NCBI chr 2:148,021,011...148,516,971
Ensembl chr 2:148,021,011...148,516,971
JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP OMIM:176270 HPO NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP OMIM:176270 HPO
G MRPS28 mitochondrial ribosomal protein S28 IAGP OMIM:618958 HPO NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289
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 NDN necdin, MAGE family member IAGP OMIM:176270 HPO NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
JBrowse link
G NOG noggin IAGP ORPHA:3237 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP OMIM:176270 HPO NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP OMIM:224690 HPO NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP ORPHA:85167 HPO NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:3474 HPO NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ORPHA:3163 HPO NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP OMIM:618419 HPO NCBI chr14:35,085,472...35,122,662
Ensembl chr14:35,085,467...35,122,517
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:101800 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP ORPHA:2658 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:79106 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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 PWAR1 Prader Willi/Angelman region RNA 1 IAGP OMIM:176270 HPO NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP OMIM:176270 HPO NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP OMIM:212720 HPO NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
JBrowse link
G RAI1 retinoic acid induced 1 IAGP OMIM:182290 HPO NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:268400 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:250250 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
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP ORPHA:2636 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP OMIM:619184 HPO NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
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 SIN3A SIN3 transcription regulator family member A IAGP OMIM:613406 HPO NCBI chr15:75,369,379...75,455,819
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SMAD4 SMAD family member 4 IAGP ORPHA:2588 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ORPHA:3051 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP OMIM:614501 HPO NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP OMIM:176270 HPO NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP OMIM:176270 HPO NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP OMIM:176270 HPO NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G TBCE tubulin folding cofactor E IAGP OMIM:241410 OMIM:244460 HPO NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G TBL1XR1 TBL1X receptor 1 IAGP OMIM:602342 HPO NCBI chr 3:177,019,344...177,197,482
Ensembl chr 3:177,019,340...177,228,000
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 TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:166272 ORPHA:93299 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190351 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP ORPHA:466950 HPO NCBI chr10:28,532,772...28,623,112
Ensembl chr10:28,532,493...28,623,112
JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:93271 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WDR81 WD repeat domain 81 IAGP OMIM:610185 HPO NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
G WNT5A Wnt family member 5A IAGP OMIM:180700 ORPHA:3107 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
G YY1AP1 YY1 associated protein 1 IAGP ORPHA:79094 HPO NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,443...155,689,000
JBrowse link
Short phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:420561 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
Short proximal phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP OMIM:616638 HPO NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
Short proximal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,740...44,853,274
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
Short proximal phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,740...44,853,274
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
Short proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
Short thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP OMIM:165800 ORPHA:435804 HPO NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G ADA2 adenosine deaminase 2 IAGP ORPHA:124 HPO NCBI chr22:17,178,790...17,221,854
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP ORPHA:3449 HPO NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ORPHA:3258 HPO NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79499 HPO NCBI chr 8:20,197,375...20,226,852
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,390
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 BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP OMIM:605724 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 OMIM:609054 HPO NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP OMIM:214800 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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 COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G CPLX1 complexin 1 IAGP OMIM:194190 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Thumb hypoplastic ClinVar PMID:25741868 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,211,444...1,250,355
Ensembl chr 4:1,211,445...1,249,953
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP OMIM:263750 HPO NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Thumb hypoplastic ClinVar PMID:25741868 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FANCA FA complementation group A IAGP OMIM:227650 HPO NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCC FA complementation group C IAGP OMIM:227645 HPO NCBI chr 9:95,099,054...95,317,730
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...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:3449 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ORPHA:2363 HPO NCBI chr 5:44,300,247...44,389,706
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...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP OMIM:194190 HPO NCBI chr 4:1,009,930...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G FLNA filamin A IAGP OMIM:304120 ORPHA:90650 ORPHA:90652 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GATA1 GATA binding protein 1 IAGP ORPHA:124 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 ORPHA:93388 ORPHA:968 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:176305 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP ORPHA:93388 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KDM1A lysine demethylase 1A IAGP ORPHA:477993 HPO NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP OMIM:194190 ORPHA:280 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LMNB2 lamin B2 IAGP OMIM:616540 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ORPHA:3258 HPO NCBI chr11:46,854,715...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ORPHA:3449 HPO NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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 NELFA negative elongation factor complex member A IAGP ORPHA:280 HPO NCBI chr 4:1,982,717...2,041,914
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP OMIM:194190 ORPHA:280 HPO NCBI chr 4:1,871,393...1,982,207
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP OMIM:610832 HPO NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
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 PKDCC protein kinase domain containing, cytoplasmic