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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:Duplication of hand bones
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Accession:HP:0004275 term browser browse the term
Synonyms:xref: UMLS:C3276746



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Accessory carpal bones 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 FLNB filamin B IAGP OMIM:150250 ORPHA:503 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Bifid distal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G PAH phenylalanine hydroxylase IAGP ORPHA:2209 HPO NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
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
Bilateral postaxial polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Complete duplication of 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 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
G LMBR1 limb development membrane protein 1 IAGP OMIM:174500 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
Complete duplication of proximal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP ClinVar Annotator: match by term: Complete duplication of the innermost bone of the thumb ClinVar PMID:25741868 NCBI chr16:8,892,097...8,963,912
Ensembl chr16:8,892,097...8,975,328
JBrowse link
Complete duplication of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 IAGP ORPHA:1879 HPO NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
Complete duplication of the middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Complete duplication of thumb phalanx term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:568 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
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 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 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ORPHA:568 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP OMIM:619121 HPO NCBI chr12:57,229,685...57,234,935
Ensembl chr12:57,229,573...57,234,935
JBrowse link
Duplication of the distal phalanx of hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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
Duplication of thumb phalanx term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP ORPHA:2995 HPO NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G ACTG1 actin gamma 1 IAGP ORPHA:2995 HPO NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
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 GLI3 GLI family zinc finger 3 IAGP OMIM:174700 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G SMO smoothened, frizzled class receptor IAGP OMIM:601707 HPO NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP OMIM:616435 HPO NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
JBrowse link
Ectopic accessory finger-like appendage term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX59 DEAD-box helicase 59 IAGP ORPHA:2919 HPO NCBI chr 1:200,640,805...200,669,969
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
Hand polydactyly 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 ORPHA:457 HPO NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP ORPHA:2971 HPO NCBI chr17:75,941,507...75,979,199
Ensembl chr17:75,941,507...75,979,177
JBrowse link
G AHI1 Abelson helper integration site 1 IAGP ORPHA:220493 ORPHA:475 HPO NCBI chr 6:135,283,532...135,497,771
Ensembl chr 6:135,283,407...135,498,434
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ORPHA:475 HPO NCBI chr 3:93,980,147...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP ORPHA:475 HPO NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP ORPHA:475 HPO NCBI chr 2:231,198,628...231,394,991
Ensembl chr 2:231,198,546...231,376,848
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,966,727...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G B9D1 B9 domain containing 1 IAGP ORPHA:475 HPO NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G BLM BLM RecQ like helicase IAGP OMIM:210900 HPO NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G CBY1 chibby family member 1, beta catenin antagonist IAGP ORPHA:475 HPO NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP OMIM:612284 ORPHA:2318 HPO NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ORPHA:7 HPO NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G CD96 CD96 molecule IAGP ORPHA:1308 HPO NCBI chr 3:111,542,118...111,665,996
Ensembl chr 3:111,292,719...111,665,750
JBrowse link
G CEP104 centrosomal protein 104 IAGP ORPHA:475 HPO NCBI chr 1:3,812,086...3,857,233
Ensembl chr 1:3,812,086...3,857,396
JBrowse link
G CEP120 centrosomal protein 120 IAGP ORPHA:220493 ORPHA:475 HPO NCBI chr 5:123,344,890...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:2318 HPO NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CEP41 centrosomal protein 41 IAGP ORPHA:220493 ORPHA:475 HPO NCBI chr 7:130,393,771...130,441,057
Ensembl chr 7:130,393,771...130,442,433
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 COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP ORPHA:2754 ORPHA:475 HPO NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:475 HPO NCBI chr 8:67,062,417...67,198,003
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ORPHA:819 HPO NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:2162 HPO NCBI chr 1:222,814,514...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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 EBP EBP cholestenol delta-isomerase IAGP ORPHA:401973 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G EFNB1 ephrin B1 IAGP ORPHA:1520 HPO NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160
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 FAM149B1 family with sequence similarity 149 member B1 IAGP ORPHA:2754 HPO NCBI chr10:73,168,090...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G FANCB FA complementation group B IAGP OMIM:314390 HPO NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:2162 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:2162 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ORPHA:2308 HPO NCBI chr11:128,685,263...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G FLII FLII actin remodeling protein IAGP ORPHA:819 HPO NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G GJB6 gap junction protein beta 6 IAGP ORPHA:189 HPO NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
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 GLI2 GLI family zinc finger 2 IAGP ORPHA:2162 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Hand polydactyly ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HESX1 HESX homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 3:57,197,838...57,227,643
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ORPHA:475 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ORPHA:220493 ORPHA:475 HPO NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ORPHA:819 HPO NCBI chr  X:53,225,784...53,321,356
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,221...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KATNIP katanin interacting protein IAGP ORPHA:475 HPO NCBI chr16:27,550,128...27,780,371
Ensembl chr16:27,550,133...27,780,369
JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:475 HPO NCBI chr14:58,427,400...58,551,297
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIAA0753 KIAA0753 IAGP ORPHA:2754 HPO NCBI chr17:6,578,147...6,640,730
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIF7 kinesin family member 7 IAGP ORPHA:2754 HPO NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G LHX3 LIM homeobox 3 IAGP ORPHA:226307 HPO NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LHX4 LIM homeobox 4 IAGP ORPHA:226307 HPO NCBI chr 1:180,228,372...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:135750 ORPHA:93405 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ORPHA:220493 ORPHA:475 HPO NCBI chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NPHP1 nephrocystin 1 IAGP ORPHA:220497 HPO NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:2754 HPO NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PDE6D phosphodiesterase 6D IAGP ORPHA:2754 HPO NCBI chr 2:231,732,428...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ORPHA:475 HPO NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ORPHA:60040 HPO NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ORPHA:2377 HPO NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G PORCN porcupine O-acyltransferase IAGP ORPHA:2092 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ORPHA:226307 HPO NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:65285 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ORPHA:819 HPO NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP ORPHA:2886 HPO NCBI chr  X:47,145,196...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:220497 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,164...73,772,167
Ensembl chr10:73,744,372...73,772,161
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
G SH2B1 SH2B adaptor protein 1 IAGP ORPHA:261197 HPO NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:2162 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP ORPHA:2162 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G STIL STIL centriolar assembly protein IAGP ORPHA:2162 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ORPHA:475 HPO NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:475 HPO NCBI chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP ORPHA:475 HPO NCBI chr12:123,671,108...123,708,405
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP OMIM:258860 ORPHA:2754 HPO NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM138 transmembrane protein 138 IAGP ORPHA:2318 HPO NCBI chr11:61,362,361...61,378,224
Ensembl chr11:61,362,344...61,369,509
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:2318 ORPHA:2754 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,360...61,398,863
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:2318 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,268
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:220497 ORPHA:2318 ORPHA:475 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ORPHA:475 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ORPHA:7 HPO NCBI chr 8:125,024,260...125,091,796
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:2162 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:314390 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
G ZNF423 zinc finger protein 423 IAGP ORPHA:2318 HPO NCBI chr16:49,487,524...49,857,919
Ensembl chr16:49,487,524...49,857,919
JBrowse link
Mesoaxial hand polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP OMIM:277170 HPO NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP OMIM:618763 HPO NCBI chr10:73,168,090...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:146510 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000
ClinVar Annotator: match by term: Interdigital finger polydactyly
HPO
ClinVar
PMID:25741868 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP OMIM:615994 HPO NCBI chr 3:45,823,316...45,916,037
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP OMIM:236700 HPO NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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
Partial duplication of the distal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101400 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:101400 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
Partial duplication of the distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101400 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:101400 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
Partial duplication of the phalanx of hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Partial duplication of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Partial duplication of thumb phalanx 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 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 DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ORPHA:857 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G 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 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
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 GLI1 GLI family zinc finger 1 IAGP OMIM:174400 HPO NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
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 NUP107 nucleoporin 107 IAGP OMIM:616730 OMIM:618348 HPO NCBI chr12:68,686,971...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G RPL11 ribosomal protein L11 IAGP ORPHA:124 HPO NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL15 ribosomal protein L15 IAGP ORPHA:124 HPO NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
JBrowse link
G RPL18 ribosomal protein L18 IAGP ORPHA:124 HPO NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
G RPL26 ribosomal protein L26 IAGP ORPHA:124 HPO NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL27 ribosomal protein L27 IAGP ORPHA:124 HPO NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
JBrowse link
G RPL31 ribosomal protein L31 IAGP ORPHA:124 HPO NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
JBrowse link
G RPL35 ribosomal protein L35 IAGP ORPHA:124 HPO NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
JBrowse link
G RPL35A ribosomal protein L35a IAGP ORPHA:124 HPO NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
JBrowse link
G RPL5 ribosomal protein L5 IAGP ORPHA:124 HPO NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
JBrowse link
G RPS10 ribosomal protein S10 IAGP ORPHA:124 HPO NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
JBrowse link
G RPS15A ribosomal protein S15a IAGP ORPHA:124 HPO NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
JBrowse link
G RPS17 ribosomal protein S17 IAGP ORPHA:124 HPO NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
JBrowse link
G RPS19 ribosomal protein S19 IAGP ORPHA:124 HPO NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RPS20 ribosomal protein S20 IAGP ORPHA:124 HPO NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RPS24 ribosomal protein S24 IAGP ORPHA:124 HPO NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS26 ribosomal protein S26 IAGP ORPHA:124 HPO NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS27 ribosomal protein S27 IAGP ORPHA:124 HPO NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
JBrowse link
G RPS28 ribosomal protein S28 IAGP ORPHA:124 HPO NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G RPS29 ribosomal protein S29 IAGP ORPHA:124 HPO NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
JBrowse link
G RPS7 ribosomal protein S7 IAGP ORPHA:124 HPO NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 ORPHA:857 HPO NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 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
Polydactyly affecting the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Polydactyly affecting the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
Postaxial hand polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP OMIM:615937 ORPHA:83473 HPO NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G ALX3 ALX homeobox 3 IAGP OMIM:136760 HPO NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP OMIM:209900 HPO NCBI chr 3:97,762,581...97,812,585
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP OMIM:617622 HPO NCBI chr 2:231,198,628...231,394,991
Ensembl chr 2:231,198,546...231,376,848
JBrowse link
G B9D1 B9 domain containing 1 IAGP ORPHA:564 HPO NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP ORPHA:564 HPO NCBI chr19:41,354,417...41,364,534
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP ORPHA:110
ClinVar Annotator: match by term: Extra pinky finger
HPO
ClinVar
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP OMIM:209900 ORPHA:110 HPO NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP ORPHA:110
ClinVar Annotator: match by term: Extra pinky finger
HPO
ClinVar
PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 More... NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ORPHA:110 HPO NCBI chr 4:122,700,437...122,744,943
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP OMIM:615981 ORPHA:110 HPO NCBI chr16:56,470,403...56,520,095
Ensembl chr16:56,465,640...56,582,667
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP ORPHA:110 HPO NCBI chr15:72,686,204...72,738,476
Ensembl chr15:72,686,179...72,738,475
JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP ORPHA:110 HPO NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP ORPHA:110 HPO NCBI chr 4:121,824,329...121,870,487
Ensembl chr 4:121,824,329...121,870,487
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP OMIM:615986 HPO NCBI chr 7:33,129,244...33,637,238
Ensembl chr 7:33,109,557...33,877,180
JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:3329 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 C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ORPHA:434179 HPO NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP OMIM:612284 ORPHA:1454 ORPHA:564 HPO NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP OMIM:209900 HPO NCBI chr 1:32,200,595...32,205,387
Ensembl chr 1:32,200,595...32,205,453
JBrowse link
G CCND2 cyclin D2 IAGP OMIM:615938 ORPHA:83473 HPO NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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 CEP120 centrosomal protein 120 IAGP ORPHA:474 HPO NCBI chr 5:123,344,890...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CEP19 centrosomal protein 19 IAGP ORPHA:110 HPO NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
JBrowse link
G CEP290 centrosomal protein 290 IAGP OMIM:611134 ORPHA:110 ORPHA:564 HPO NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP OMIM:617406 ORPHA:110 HPO NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 IAGP OMIM:618219 HPO NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:564 HPO NCBI chr 8:67,062,417...67,198,003
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP OMIM:174300 ORPHA:2919 HPO NCBI chr 1:200,640,805...200,669,969
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 ORPHA:818 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:474 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:474 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:474 ORPHA:93271 HPO NCBI chr 9:128,633,653...128,656,847
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP OMIM:617088 ORPHA:474 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP OMIM:193530 OMIM:225500 ORPHA:952 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 OMIM:225500 ORPHA:952 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101200 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLNA filamin A IAGP OMIM:304120 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
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 GLI2 GLI family zinc finger 2 IAGP OMIM:610829 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:146510 OMIM:174200 OMIM:175700 ORPHA:36 ORPHA:380
ClinVar Annotator: match by term: Extra pinky finger
HPO
ClinVar
PMID:28492532 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 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 OMIM:312870 ORPHA:373 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 OMIM:176305 ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680 ORPHA:2189 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G IFT140 intraflagellar transport 140 IAGP ORPHA:474 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP OMIM:615630 ORPHA:110 ORPHA:474 HPO NCBI chr 2:27,444,373...27,489,819
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT27 intraflagellar transport 27 IAGP ORPHA:110 HPO NCBI chr22:36,758,208...36,776,119
Ensembl chr22:36,758,202...36,776,256
JBrowse link
G IFT74 intraflagellar transport 74 IAGP ORPHA:110 HPO NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G IFT80 intraflagellar transport 80 IAGP OMIM:611263 ORPHA:474 ORPHA:93271 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP OMIM:213300 ORPHA:1454 HPO NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 ORPHA:2189 ORPHA:36
ClinVar Annotator: match by term: Extra pinky finger
HPO
ClinVar
PMID:25741868 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:174500 ORPHA:3332 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP OMIM:615994 HPO NCBI chr 3:45,823,316...45,916,037
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP OMIM:308205 ORPHA:85284 HPO NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ORPHA:65759 HPO NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP OMIM:236700 ORPHA:110 ORPHA:2473 HPO NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 ORPHA:110 ORPHA:564 HPO NCBI chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Extra pinky finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G NEK1 NIMA related kinase 1 IAGP OMIM:263520 ORPHA:2751 HPO NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,809...169,612,627
JBrowse link
G NPHP1 nephrocystin 1 IAGP ORPHA:110 HPO NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:2750 HPO NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP OMIM:301056 HPO NCBI chr  X:48,922,024...48,960,783
Ensembl chr  X:48,922,024...48,958,386
JBrowse link
G PDE6D phosphodiesterase 6D IAGP OMIM:615665 HPO NCBI chr 2:231,732,428...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ClinVar Annotator: match by term: Extra pinky finger ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ORPHA:83473 HPO NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
JBrowse link
G PLAA phospholipase A2 activating protein IAGP ORPHA:521426 HPO NCBI chr 9:26,903,372...26,947,267
Ensembl chr 9:26,903,372...26,947,242
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 PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP OMIM:619143 HPO NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 ORPHA:65759 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ORPHA:564 HPO NCBI chr14:21,280,083...21,351,316
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP OMIM:611560 OMIM:611561 ORPHA:1454 ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SC5D sterol-C5-desaturase IAGP OMIM:607330 ORPHA:46059 HPO NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP ORPHA:110 HPO NCBI chr15:76,347,904...76,905,455
Ensembl chr15:76,347,904...76,905,444
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ORPHA:110 HPO NCBI chr 1:243,255,418...243,503,683
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SETBP1 SET binding protein 1 IAGP OMIM:269150 HPO NCBI chr18:44,680,072...45,068,510
Ensembl chr18:44,680,173...45,068,510
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 SMO smoothened, frizzled class receptor IAGP OMIM:241800 HPO NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
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 TBX3 T-box transcription factor 3 IAGP OMIM:181450 ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:564 HPO NCBI chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP OMIM:613885 OMIM:616654 ORPHA:564 HPO NCBI chr12:123,671,108...123,708,405
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP OMIM:609192 HPO NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP OMIM:213980 HPO NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TMEM107 transmembrane protein 107 IAGP OMIM:617563 ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP OMIM:603194 OMIM:608091 ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,360...61,398,863
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:2752 ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,268
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:564 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP OMIM:216360 OMIM:607361 ORPHA:1454 ORPHA:564 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ORPHA:110 HPO NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ORPHA:474 HPO NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP ORPHA:110 HPO NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP ORPHA:564 HPO NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP OMIM:217085 ORPHA:110 HPO NCBI chr 2:63,119,559...63,588,733
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:474 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:613610 ORPHA:93271 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:228930 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
G ZNF141 zinc finger protein 141 IAGP OMIM:615226 HPO NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
JBrowse link
Postaxial polydactyly type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIBAR1 CBY1 interacting BAR domain containing 1 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A ClinVar PMID:30395363 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
JBrowse link
G KIAA0825 KIAA0825 IAGP OMIM:618498 HPO NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
JBrowse link
Preaxial hand polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D1 B9 domain containing 1 IAGP ORPHA:564 HPO NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP ORPHA:564 HPO NCBI chr19:41,354,417...41,364,534
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP ORPHA:3329 HPO NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
JBrowse link
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 CC2D2A coiled-coil and C2 domain containing 2A IAGP ORPHA:564 HPO NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:564 HPO NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
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 CPLANE1 ciliogenesis and planar polarity effector 1 IAGP OMIM:277170 HPO NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,376
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 CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:564 HPO NCBI chr 8:67,062,417...67,198,003
Ensembl chr 8:67,062,417...67,196,778
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 DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ORPHA:857 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G 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 EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP OMIM:610536 ORPHA:79113 HPO NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
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 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 FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101200 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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 GJA1 gap junction protein alpha 1 IAGP ORPHA:2710 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP OMIM:174400
ClinVar Annotator: match by term: Preaxial hand polydactyly
HPO
ClinVar
PMID:25741868 PMID:30620395 NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:175700 ORPHA:380 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:887 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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 KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
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 LMBR1 limb development membrane protein 1 IAGP OMIM:174500 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 MKS1 MKS transition zone complex subunit 1 IAGP ORPHA:564 HPO NCBI chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NEK1 NIMA related kinase 1 IAGP OMIM:263520 HPO NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,809...169,612,627
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 OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:2750 HPO NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PHF8 PHD finger protein 8 IAGP ORPHA:85287 HPO NCBI chr  X:53,936,680...54,048,935
Ensembl chr  X:53,936,676...54,048,958
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 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 RPGRIP1 RPGR interacting protein 1 IAGP ORPHA:564 HPO NCBI chr14:21,280,083...21,351,316
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP OMIM:107480 ORPHA:857 HPO NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:2307 ORPHA:233 ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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 SMO smoothened, frizzled class receptor IAGP OMIM:601707 ORPHA:1553 HPO NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:564 HPO NCBI chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP ORPHA:564 HPO NCBI chr12:123,671,108...123,708,405
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP OMIM:113620 ORPHA:1297 HPO NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,360...61,398,863
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,268
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:564 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ORPHA:564 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP ORPHA:564 HPO NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
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 ZNF699 zinc finger protein 699 IAGP OMIM:619488 HPO NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Duplication of bones involving the upper extremities 231
            Duplication of hand bones 231
              Accessory carpal bones + 2
              Duplication of phalanx of hand + 230
paths to the root