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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:Slender finger
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Accession:HP:0001238 term browser browse the term
Definition:Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Synonyms:exact_synonym: Narrow fingers;   SLENDER FINGERS;   thin fingers
 xref: UMLS:C1857482



show annotations for term's descendants           Sort by:
Slender finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO OMIM:617755 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO OMIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO OMIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO OMIM:610536 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP HPO OMIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO OMIM:609813 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO OMIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP HPO OMIM:250940 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO OMIM:300243 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269
JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP HPO OMIM:620393 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693
JBrowse link
G TRAPPC9 trafficking protein particle complex subunit 9 IAGP HPO OMIM:613192 NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579
JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
JBrowse link
Arachnodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO OMIM:617602 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP HPO ORPHA:2604 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO OMIM:619036 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO OMIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO OMIM:615485 ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 IAGP HPO OMIM:619910 NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G BGN biglycan IAGP HPO OMIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO OMIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
JBrowse link
G C1R complement C1r IAGP HPO OMIM:130080 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G CBS cystathionine beta-synthase IAGP HPO OMIM:236200 ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO OMIM:601776 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G CIC capicua transcriptional repressor IAGP HPO OMIM:617600 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
JBrowse link
G CNTN1 contactin 1 IAGP HPO OMIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:604841 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:108300 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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 CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G CTSC cathepsin C IAGP HPO OMIM:245010 ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO OMIM:614416 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP HPO OMIM:618793 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO OMIM:615539 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO OMIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO OMIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FBLN5 fibulin 5 IAGP HPO OMIM:219100 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBN1 fibrillin 1 IAGP DNA:missense mutation:exon:p.C596G (c.1786T>G)
ClinVar Annotator: match by term: Arachnodactyly
ClinVar Annotator: match by term: Long slender fingers
ClinVar
HPO
RGD
PMID:7611299 PMID:8040326 PMID:8541880 PMID:8791520 PMID:8894692 More... OMIM:154700 OMIM:604308 OMIM:616914 ORPHA:2462 ORPHA:284979 ORPHA:91387, RGD:12910134 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBN2 fibrillin 2 IAGP HPO OMIM:121050 ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:207410 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 OMIM:610474 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP HPO OMIM:305620 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G H3-3B H3.3 histone B IAGP HPO OMIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO OMIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO OMIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO OMIM:300986 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133
JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Arachnodactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:309520 ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO OMIM:616166 ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
JBrowse link
G MTM1 myotubularin 1 IAGP HPO OMIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143
JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:371364 ORPHA:562528 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO OMIM:619092 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NKAP NFKB activating protein IAGP DNA:missense mutations:exon 8-9:multiple (human) HPO
RGD
PMID:31587868 OMIM:301039, RGD:155641252 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO OMIM:615923 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO OMIM:619543 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP ClinVar Annotator: match by term: Long slender fingers ClinVar PMID:25741868 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
JBrowse link
G PAPPA2 pappalysin 2 IAGP HPO OMIM:619489 NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601
JBrowse link
G PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
JBrowse link
G PHF8 PHD finger protein 8 IAGP HPO OMIM:300263 NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:108145 OMIM:248700 OMIM:617146 ORPHA:1154 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:201750 OMIM:207410 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO ORPHA:93946 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402
JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:377 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO OMIM:616420 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
G RECQL RecQ like helicase IAGP HPO OMIM:620370 NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669
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 SATB2 SATB homeobox 2 IAGP HPO OMIM:612313 ORPHA:251019 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
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:261222 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO OMIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SKI SKI proto-oncogene IAGP HPO OMIM:182212 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO OMIM:208050 ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO OMIM:619656 ORPHA:60030 ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 ORPHA:60030 ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO OMIM:616938 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SOX6 SRY-box transcription factor 6 IAGP HPO OMIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:377 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 TGFB2 transforming growth factor beta 2 IAGP HPO OMIM:614816 ORPHA:60030 ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 ORPHA:60030 ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO OMIM:609192 ORPHA:60030 ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO OMIM:610168 ORPHA:60030 ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO ORPHA:2707 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
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 UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Arachnodactyly ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO OMIM:605822 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO OMIM:619609 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO OMIM:300799 ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the upper limb 1824
          Abnormality of the hand 1655
            Abnormal finger morphology 1290
              Slender finger 160
                Arachnodactyly 135
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal limb bone morphology 1866
                Abnormal digit morphology 1635
                  Abnormal finger morphology 1290
                    Slender finger 160
                      Arachnodactyly 135
paths to the root