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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


show annotations for term's descendants           Sort by:
Duplication of hand bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 IAGP HPO ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Accessory carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO MIM:311300 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 HPO MIM:150250 ORPHA:503 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 HPO MIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G PAH phenylalanine hydroxylase IAGP HPO ORPHA:2209 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 HPO MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
Bifid first metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		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 HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO MIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		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 HPO ORPHA:93384 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:93384 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G ZRS ZPA regulatory sequence IAGP HPO MIM:174500 NCBI chr 7:156,790,708...156,793,079 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 HPO ORPHA:363417 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 HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		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 HPO ORPHA:1879 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 HPO ORPHA:363417 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 HPO ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FANCA FA complementation group A IAGP HPO MIM:227650 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO MIM:600901 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO ORPHA:568 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 HPO MIM:619121 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935 		JBrowse link
Duplication of phalanx of hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		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 HPO MIM:180700 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 HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO MIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Duplication of thumb phalanx term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:2995 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 HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:2363 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 HPO MIM:620192 ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:174700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:601707 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO MIM:616435 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G ZRS ZPA regulatory sequence IAGP HPO MIM:174500 NCBI chr 7:156,790,708...156,793,079 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 HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
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 HPO ORPHA:457 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 HPO ORPHA:2971 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO ORPHA:475 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO ORPHA:475 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 HPO ORPHA:475 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:475 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:475 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP HPO ORPHA:475 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 HPO ORPHA:2318 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CD96 CD96 molecule IAGP HPO ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO ORPHA:475 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:2318 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO MIM:214800 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 HPO ORPHA:567 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 complex subunit 1 IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:475 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:401973 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 HPO ORPHA:1520 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 HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G FANCB FA complementation group B IAGP HPO MIM:314390 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Hand polydactyly ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 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 HPO ORPHA:475 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:475 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO ORPHA:475 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:475 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 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 HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO MIM:135750 ORPHA:93405 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 HPO ORPHA:220493 ORPHA:475 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:220497 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 HPO ORPHA:2750 ORPHA:2754 ORPHA:475 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO ORPHA:475 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 HPO ORPHA:60040 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:2377 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 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 HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 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 HPO ORPHA:65285 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:220497 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 HPO ORPHA:567 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 HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 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 HPO ORPHA:93405 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:475 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 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 HPO ORPHA:475 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:475 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:258860 ORPHA:2754 ORPHA:475 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2318 ORPHA:2754 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO ORPHA:475 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 ORPHA:2754 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:220497 ORPHA:2318 ORPHA:475 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:475 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO ORPHA:475 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO MIM:314390 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 HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
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 complex subunit 1 IAGP HPO MIM:277170 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO MIM:618763 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HOXD13 homeobox D13 IAGP ClinVar Annotator: match by term: Mesoaxial hand polydactyly ClinVar
HPO		 PMID:22233338 PMID:25741868 MIM:186000 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO MIM:615996 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO MIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO MIM:616890 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO MIM:236700 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...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 HPO MIM:101400 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 HPO MIM:101400 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 HPO MIM:101400 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 HPO MIM:101400 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 HPO MIM:616331 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 HPO ORPHA:363417 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 HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 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 HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO MIM:620193 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:149730 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO MIM:174400 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO MIM:616730 MIM:618348 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 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 HPO ORPHA:124 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 HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 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 HPO ORPHA:124 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 HPO ORPHA:124 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 HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 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 HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 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 HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 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 HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 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 HPO MIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 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 HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
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 HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
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 HPO MIM:615937 ORPHA:83473 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 HPO MIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO MIM:617622 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO MIM:614175 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP ClinVar Annotator: match by term: Extra pinky finger 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 HPO MIM:209900 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 ClinVar Annotator: match by term: Postaxial polydactyly of fingers 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 HPO MIM:615989 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:615981 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO MIM:615986 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:3329 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 HPO ORPHA:2098 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 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 HPO MIM:612284 ORPHA:1454 ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G CCND2 cyclin D2 IAGP HPO MIM:615938 ORPHA:83473 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CD96 CD96 molecule IAGP HPO MIM:211750 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:611134 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO MIM:617406 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 HPO MIM:618219 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:277170 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO MIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:474 ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO MIM:617088 ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP HPO MIM:617405 NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP DNA:mutation:exon:c.1678G>T(human) HPO
RGD		 PMID:29229899 MIM:193530 MIM:225500 ORPHA:952, RGD:155260290 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO MIM:193530 MIM:225500 ORPHA:952 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FLNA filamin A IAGP HPO MIM:304120 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 HPO MIM:113100 MIM:200700 ORPHA:2098 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 HPO MIM:610829 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: Extra pinky finger ClinVar
HPO		 PMID:28492532 MIM:146510 MIM:174200 MIM:175700 ORPHA:36 ORPHA:380 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO MIM:176305 ORPHA:2438 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 HPO MIM:236680 ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 ORPHA:474 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615630 MIM:619471 ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO MIM:611263 ORPHA:474 ORPHA:93271 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 HPO MIM:213300 ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G IQCE IQ motif containing E IAGP HPO MIM:617642 NCBI chr 7:2,558,979...2,614,728
Ensembl chr 7:2,558,972...2,614,733 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:617127 ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIAA0825 KIAA0825 IAGP HPO MIM:618498 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604 		JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:29286531 MIM:200990 MIM:614120 ORPHA:2189 ORPHA:36 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 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 HPO MIM:190605 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 HPO MIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAX MYC associated factor X IAGP HPO MIM:620712 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:308205 ORPHA:85284 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 HPO ORPHA:65759 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 HPO MIM:236700 ORPHA:2473 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 HPO MIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
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: Postaxial polydactyly of fingers 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 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-TA mitochondrially encoded tRNA-Ala (GCN) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,587...5,655
Ensembl chr MT:5,587...5,655 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TD mitochondrially encoded tRNA-Asp (GAU/C) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,518...7,585
Ensembl chr MT:7,518...7,585 		JBrowse link
G MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TM mitochondrially encoded tRNA-Met (AUA/G) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,402...4,469
Ensembl chr MT:4,402...4,469 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TR mitochondrially encoded tRNA-Arg (CGN) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Postaxial polydactyly of fingers ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 MIM:263520 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:300209 MIM:300804 ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO MIM:615665 NCBI chr 2:231,732,433...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 Annotator: match by term: Postaxial polydactyly of fingers		 ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO ORPHA:83473 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 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 HPO MIM:619143 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 HPO MIM:201000 ORPHA:65759 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO MIM:611560 MIM:611561 ORPHA:1454 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO MIM:607330 ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SCNM1 sodium channel modifier 1 IAGP HPO MIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO MIM:206920 ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:617757 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO MIM:181450 ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO MIM:616654 ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 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 HPO MIM:617563 ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:603194 MIM:608091 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:216360 MIM:607361 ORPHA:1454 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO MIM:619879 ORPHA:564 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 HPO MIM:217085 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:613610 ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:228930 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 HPO MIM:615226 NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868 		JBrowse link
G ZRS ZPA regulatory sequence IAGP HPO MIM:174500 NCBI chr 7:156,790,708...156,793,079 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:25741868 PMID:30395363 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G KIAA0825 KIAA0825 IAGP HPO MIM:618498 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO MIM:217085 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		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 HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:3329 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO MIM:617063 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 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 complex subunit 1 IAGP HPO MIM:277170 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 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 HPO ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO MIM:610536 ORPHA:79113 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 HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 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 HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 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 ClinVar Annotator: match by term: Preaxial hand polydactyly ClinVar
HPO		 PMID:25741868 PMID:30620395 MIM:174400 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 MIM:174200 MIM:175700 ORPHA:380 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO MIM:620072 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO ORPHA:210548 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 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 HPO MIM:200990 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO MIM:190605 ORPHA:2378 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 HPO ORPHA:233 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 HPO ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 MIM:263520 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PHF8 PHD finger protein 8 IAGP HPO ORPHA:85287 NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:210548 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO MIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:2307 ORPHA:233 ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:601707 ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZRS ZPA regulatory sequence IAGP HPO MIM:174500 NCBI chr 7:156,790,708...156,793,079 JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of limbs 2641
        Abnormality of the upper limb 1854
          Duplication of bones involving the upper extremities 262
            Duplication of hand bones 262
              Accessory carpal bones + 2
              Duplication of phalanx of hand + 260
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of limbs 2641
        Abnormality of the upper limb 1854
          Abnormality of the hand 1678
            Abnormal hand morphology 1112
              Duplication of hand bones 262
                Accessory carpal bones + 2
                Duplication of phalanx of hand + 260
paths to the root