Term: | Abnormality of connective tissue |
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Accession: | HP:0003549
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browse the term
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Definition: | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
Synonyms: | xref: | UMLS:C4025596 |
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ACTA2 |
actin alpha 2, smooth muscle |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Abnormality of connective tissue |
ClinVar |
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NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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FBN1 |
fibrillin 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of connective tissue |
ClinVar HPO |
PMID:16571647 PMID:16905551 PMID:17657824 PMID:17701892 PMID:19349279 PMID:23653584 PMID:25741868 PMID:28492532 More...
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ORPHA:91387 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FOXE3 |
forkhead box E3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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HEY2 |
hes related family bHLH transcription factor with YRPW motif 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
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HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
DNA:polymorphism:cds:HLA-DRB1*04 |
RGD |
PMID:12559632 |
RGD:5147801 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HPGD |
15-hydroxyprostaglandin dehydrogenase |
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IAGP |
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HPO |
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ORPHA:217059 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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LOC126862124 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of connective tissue |
ClinVar |
PMID:25741868 |
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NCBI chr15:48,472,369...48,473,568
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LOX |
lysyl oxidase |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
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MAT2A |
methionine adenosyltransferase 2A |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
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MFAP5 |
microfibril associated protein 5 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
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MYH11 |
myosin heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
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MYLK |
myosin light chain kinase |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
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NOTCH1 |
notch receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of connective tissue |
ClinVar |
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NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PRKG1 |
protein kinase cGMP-dependent 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of connective tissue |
ClinVar |
PMID:19648921 PMID:24035636 PMID:25741868 |
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NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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SLC39A13 |
solute carrier family 39 member 13 |
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IAGP |
DNA:missense mutation:cds:p.G74D ClinVar Annotator: match by term: Abnormality of connective tissue |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:18985159 |
RGD:11553861 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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TAB2 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 2 |
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IAGP |
DNA:deletions:multiple: (human) |
RGD |
PMID:28464518 |
RGD:155663379 |
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
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TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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TGFBR1 |
transforming growth factor beta receptor 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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THSD4 |
thrombospondin type 1 domain containing 4 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
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ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:280071 |
NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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MFN2 |
mitofusin 2 |
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IAGP |
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HPO |
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ORPHA:2398 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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TREM2 |
triggering receptor expressed on myeloid cells 2 |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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VDR |
vitamin D receptor |
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IAGP |
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HPO |
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ORPHA:93160 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
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IAGP |
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HPO |
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ORPHA:816 |
NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ATR |
ATR serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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ATRIP |
ATR interacting protein |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:828 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CCDC8 |
coiled-coil domain containing 8 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CENPE |
centromere protein E |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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CENPJ |
centromere protein J |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
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CEP152 |
centrosomal protein 152 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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CIB2 |
calcium and integrin binding family member 2 |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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CLDN1 |
claudin 1 |
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IAGP |
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HPO |
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ORPHA:59303 |
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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CLEC7A |
C-type lectin domain containing 7A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
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CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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ORPHA:1873 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Abnormal dental enamel morphology |
ClinVar |
PMID:8037207 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 More...
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CUL7 |
cullin 7 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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DNA2 |
DNA replication helicase/nuclease 2 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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ELMO2 |
engulfment and cell motility 2 |
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IAGP |
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HPO |
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ORPHA:3019 |
NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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ESPN |
espin |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
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FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
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IAGP |
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HPO |
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ORPHA:1031 |
NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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ORPHA:2908 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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FGF10 |
fibroblast growth factor 10 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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GTF2I |
general transcription factor IIi |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:3071 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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IL17F |
interleukin 17F |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
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IL17RA |
interleukin 17 receptor A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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IL17RC |
interleukin 17 receptor C |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
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JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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LIMK1 |
LIM domain kinase 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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ORPHA:1458 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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ORPHA:2273 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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METTL27 |
methyltransferase like 27 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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MFN2 |
mitofusin 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormal dental enamel morphology |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
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NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MYO7A |
myosin VIIA |
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IAGP |
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HPO |
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ORPHA:231169 ORPHA:231178 |
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:139474 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NUP85 |
nucleoporin 85 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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OBSL1 |
obscurin like cytoskeletal adaptor 1 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:2750 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PCDH15 |
protocadherin related 15 |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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PCNT |
pericentrin |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:439822 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PDZD7 |
PDZ domain containing 7 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:3163 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:257 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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RNU12 |
RNA, U12 small nuclear |
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IAGP |
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HPO |
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ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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ROGDI |
rogdi atypical leucine zipper |
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IAGP |
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HPO |
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ORPHA:1946 |
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
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RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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ORPHA:1946 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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ORPHA:2323 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRAF3IP2 |
TRAF3 interacting protein 2 |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
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TRAIP |
TRAF interacting protein |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
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UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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USH1C |
USH1 protein network component harmonin |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
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USH1G |
USH1 protein network component sans |
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IAGP |
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HPO |
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ORPHA:231169 |
NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
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USH2A |
usherin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WHRN |
whirlin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:401911 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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ORPHA:79255 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
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G |
PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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MIM:212065 ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
TBL1XR1 |
TBL1X/Y related 1 |
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IAGP |
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HPO |
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ORPHA:487825 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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G |
TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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ORPHA:1328 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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ORPHA:1901 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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G |
ADAMTSL2 |
ADAMTS like 2 |
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IAGP |
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HPO |
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ORPHA:1901 |
NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
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G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
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IAGP |
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HPO |
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ORPHA:79325 |
NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
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G |
COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:1899 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:1899 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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G |
AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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G |
CAV1 |
caveolin 1 |
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IAGP |
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HPO |
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MIM:606721 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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MIM:601675 ORPHA:33364 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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MIM:610965 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:616914 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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GTF2E2 |
general transcription factor IIE subunit 2 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5 |
general transcription factor IIH subunit 5 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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G |
KCNJ6 |
potassium inwardly rectifying channel subfamily J member 6 |
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IAGP |
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HPO |
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MIM:614098 |
NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:176670 ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
MPLKIP |
M-phase specific PLK1 interacting protein |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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MIM:269880 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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MIM:264090 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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G |
PRIM1 |
DNA primase subunit 1 |
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IAGP |
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HPO |
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MIM:620005 |
NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374
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RNF113A |
ring finger protein 113A |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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TARS1 |
threonyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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MIM:619719 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ABHD12 |
abhydrolase domain containing 12, lysophospholipase |
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IAGP |
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HPO |
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MIM:612674 |
NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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MIM:616852 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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G |
ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
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IAGP |
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HPO |
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MIM:620545 |
NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
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G |
ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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IAGP |
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HPO |
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MIM:607225 |
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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G |
ANO5 |
anoctamin 5 |
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IAGP |
ClinVar Annotator: match by term: Achilles tendon contracture |
ClinVar |
PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23606453 PMID:23607914 PMID:23757202 PMID:24022920 PMID:24232312 PMID:24843231 PMID:25741868 PMID:25891276 PMID:26467025 PMID:26886200 PMID:27708273 PMID:27911336 PMID:28187523 PMID:28492532 PMID:30919934 More...
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NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
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HPO |
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MIM:615290 |
NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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G |
COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:610 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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G |
COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:610 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G |
COL6A2 |
collagen type VI alpha 2 chain |
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IAGP |
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HPO |
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MIM:255600 ORPHA:610 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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G |
COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:610 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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IAGP |
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HPO |
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ORPHA:370980 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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G |
DMD |
dystrophin |
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IAGP |
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HPO |
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MIM:310200 |
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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G |
DNM2 |
dynamin 2 |
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IAGP |
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HPO |
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MIM:160150 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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G |
EMD |
emerin |
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IAGP |
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HPO |
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MIM:310300 ORPHA:98863 |
NCBI chr X:154,379,295...154,381,523
Ensembl chr X:154,379,273...154,381,574
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G |
FHL1 |
four and a half LIM domains 1 |
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IAGP |
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HPO |
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MIM:300695 MIM:300696 ORPHA:98863 |
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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G |
FKRP |
fukutin related protein |
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IAGP |
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HPO |
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MIM:606612 MIM:607155 ORPHA:370980 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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G |
FKTN |
fukutin |
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IAGP |
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HPO |
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ORPHA:370980 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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G |
GJB1 |
gap junction protein beta 1 |
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IAGP |
ClinVar Annotator: match by term: Achilles tendon contracture |
ClinVar HPO |
PMID:16096811 PMID:21291455 PMID:22243284 PMID:25388846 PMID:25741868 PMID:26467025 PMID:28448691 PMID:28492532 More...
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MIM:302800 |
NCBI chr X:71,215,239...71,225,516
Ensembl chr X:71,212,811...71,225,516
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G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:252940 |
NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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G |
HINT1 |
histidine triad nucleotide binding protein 1 |
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IAGP |
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HPO |
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ORPHA:324442 |
NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:218040 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
JAG2 |
jagged canonical Notch ligand 2 |
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IAGP |
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HPO |
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MIM:619566 |
NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
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G |
KY |
kyphoscoliosis peptidase |
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IAGP |
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HPO |
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MIM:617114 |
NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
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G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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MIM:608840 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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G |
LMNA |
lamin A/C |
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IAGP |
DNA:missense mutations, nonsense mutation:cds:multiple |
HPO RGD |
PMID:10080180 |
MIM:181350 MIM:613205 ORPHA:98853 ORPHA:98855, RGD:12791020 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LMX1B |
LIM homeobox transcription factor 1 beta |
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IAGP |
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HPO |
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ORPHA:2614 |
NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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G |
MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:620323 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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G |
MEGF10 |
multiple EGF like domains 10 |
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IAGP |
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HPO |
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MIM:620249 |
NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
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G |
MT-TE |
mitochondrially encoded tRNA-Glu (GAA/G) |
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IAGP |
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HPO |
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ORPHA:2596 |
NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
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G |
MTMR14 |
myotubularin related protein 14 |
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IAGP |
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HPO |
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MIM:160150 |
NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
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G |
MYOT |
myotilin |
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IAGP |
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HPO |
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MIM:609200 |
NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
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G |
NGLY1 |
N-glycanase 1 |
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IAGP |
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HPO |
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ORPHA:404454 |
NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
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G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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MIM:611091 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
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HPO |
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MIM:210000 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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G |
PLAAT3 |
phospholipase A and acyltransferase 3 |
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IAGP |
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HPO |
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MIM:620683 |
NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883
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G |
PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:254361 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370980 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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G |
PTRH2 |
peptidyl-tRNA hydrolase 2 |
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IAGP |
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HPO |
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MIM:616263 ORPHA:456312 |
NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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G |
PYROXD1 |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
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IAGP |
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HPO |
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MIM:617258 |
NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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MIM:620351 MIM:620369 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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G |
SGCA |
sarcoglycan alpha |
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IAGP |
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HPO |
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ORPHA:62 |
NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
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G |
SGCG |
sarcoglycan gamma |
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IAGP |
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HPO |
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ORPHA:353 |
NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
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G |
SLC12A6 |
solute carrier family 12 member 6 |
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IAGP |
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HPO |
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MIM:620068 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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IAGP |
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HPO |
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MIM:615418 |
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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G |
SLC39A14 |
solute carrier family 39 member 14 |
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IAGP |
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HPO |
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MIM:617013 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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G |
SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:620528 |
NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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G |
SYNE1 |
spectrin repeat containing nuclear envelope protein 1 |
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IAGP |
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HPO |
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ORPHA:98853 |
NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
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G |
SYNE2 |
spectrin repeat containing nuclear envelope protein 2 |
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IAGP |
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HPO |
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ORPHA:98853 |
NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
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G |
TMEM43 |
transmembrane protein 43 |
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IAGP |
|
HPO |
|
ORPHA:98853 |
NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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G |
TNNT1 |
troponin T1, slow skeletal type |
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IAGP |
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HPO |
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MIM:620389 |
NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206
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G |
TTN |
titin |
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IAGP |
|
HPO |
|
MIM:603689 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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G |
UFC1 |
ubiquitin-fold modifier conjugating enzyme 1 |
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IAGP |
|
HPO |
|
MIM:618076 |
NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
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G |
ZC4H2 |
zinc finger C4H2-type containing |
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IAGP |
|
HPO |
|
MIM:301041 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
IAGP |
|
HPO |
|
MIM:210000 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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G |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
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G |
BLM |
BLM RecQ like helicase |
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IAGP |
|
HPO |
|
ORPHA:125 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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G |
CAV1 |
caveolin 1 |
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IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CAVIN1 |
caveolae associated protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
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G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
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IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
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G |
INSR |
insulin receptor |
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IAGP |
|
HPO |
|
MIM:246200 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
LMNA |
lamin A/C |
|
IAGP |
|
HPO |
|
MIM:151660 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
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IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PSMB8 |
proteasome 20S subunit beta 8 |
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IAGP |
|
HPO |
|
MIM:256040 |
NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
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G |
ACP4 |
acid phosphatase 4 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:27843125 |
MIM:617297 |
NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
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G |
AMBN |
ameloblastin |
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IAGP |
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HPO |
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MIM:616270 |
NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
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AMELX |
amelogenin X-linked |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
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MIM:301200 |
NCBI chr X:11,293,413...11,309,588
Ensembl chr X:11,293,413...11,300,761
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AMTN |
amelotin |
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IAGP |
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HPO |
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MIM:617607 |
NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743
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ARHGAP6 |
Rho GTPase activating protein 6 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr X:11,137,544...11,665,920
Ensembl chr X:11,117,651...11,665,920
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BNC2 |
basonuclin zinc finger protein 2 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
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BNC2-AS1 |
BNC2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 9:16,726,814...16,727,524
Ensembl chr 9:16,726,804...16,727,551
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CHCHD2 |
coiled-coil-helix-coiled-coil-helix domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
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NCBI chr 7:56,101,573...56,106,476
Ensembl chr 7:56,094,567...56,106,479
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CLDN16 |
claudin 16 |
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IAGP |
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HPO |
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MIM:248250 |
NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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CLDN19 |
claudin 19 |
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IAGP |
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HPO |
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MIM:248190 |
NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
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CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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ORPHA:1873 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:25741868 |
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NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
DLX3 |
distal-less homeobox 3 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:25741868 |
MIM:104510 |
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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MIM:617052 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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G |
ENAM |
enamelin |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
MIM:104500 MIM:204650 |
NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824
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FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
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IAGP |
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HPO |
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MIM:204690 ORPHA:1031 |
NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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G |
GPR68 |
G protein-coupled receptor 68 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:27693231 |
MIM:617217 |
NCBI chr14:91,232,532...91,270,790
Ensembl chr14:91,232,532...91,253,925
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ITGB6 |
integrin subunit beta 6 |
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IAGP |
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HPO |
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MIM:616221 |
NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888
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G |
KLK4 |
kallikrein related peptidase 4 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
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MIM:204700 |
NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395
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LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:245660 |
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
HPO ClinVar |
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MIM:104530 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:35998423 |
MIM:601216 |
NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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MMP20 |
matrix metallopeptidase 20 |
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IAGP |
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HPO |
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MIM:612529 |
NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332
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ODAPH |
odontogenesis associated phosphoprotein |
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IAGP |
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HPO |
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MIM:614832 |
NCBI chr 4:75,556,066...75,565,893
Ensembl chr 4:75,556,048...75,565,871
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ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
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IAGP |
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HPO |
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MIM:612782 |
NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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MIM:234580 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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G |
PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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MIM:616617 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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G |
PSPH |
phosphoserine phosphatase |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar |
PMID:28492532 |
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NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604
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G |
RELT |
RELT TNF receptor |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
HPO ClinVar |
PMID:25741868 PMID:30506946 PMID:32052416 |
MIM:618386 |
NCBI chr11:73,376,399...73,397,474
Ensembl chr11:73,376,399...73,397,474
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G |
ROGDI |
rogdi atypical leucine zipper |
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IAGP |
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HPO |
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MIM:226750 ORPHA:1946 |
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
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G |
SATB1 |
SATB homeobox 1 |
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IAGP |
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HPO |
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MIM:619229 |
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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G |
SLC10A7 |
solute carrier family 10 member 7 |
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IAGP |
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HPO |
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MIM:618363 |
NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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MIM:615905 ORPHA:1946 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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G |
SLC24A4 |
solute carrier family 24 member 4 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
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MIM:615887 |
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
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G |
SMARCD2 |
SWI/SNF related BAF chromatin remodeling complex subunit D2 |
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IAGP |
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HPO |
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MIM:617475 |
NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
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SP6 |
Sp6 transcription factor |
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IAGP |
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HPO |
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MIM:620104 |
NCBI chr17:47,844,908...47,876,311
Ensembl chr17:47,844,908...47,855,874
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STIM1 |
stromal interaction molecule 1 |
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IAGP |
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HPO |
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MIM:612783 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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TMEM165 |
transmembrane protein 165 |
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IAGP |
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HPO |
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MIM:614727 |
NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397
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G |
WDR72 |
WD repeat domain 72 |
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IAGP |
ClinVar Annotator: match by term: Amelogenesis imperfecta |
ClinVar HPO |
PMID:24033266 PMID:25741868 |
MIM:613211 |
NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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G |
COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
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HPO |
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MIM:158810 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G |
COL6A2 |
collagen type VI alpha 2 chain |
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IAGP |
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HPO |
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MIM:620725 MIM:620727 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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G |
COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
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HPO |
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MIM:620728 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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G |
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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IAGP |
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HPO |
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MIM:620460 |
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
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G |
SLC4A10 |
solute carrier family 4 member 10 |
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IAGP |
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HPO |
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MIM:620746 |
NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282
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G |
SPTBN4 |
spectrin beta, non-erythrocytic 4 |
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IAGP |
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HPO |
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MIM:617519 |
NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
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G |
TNNT1 |
troponin T1, slow skeletal type |
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IAGP |
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HPO |
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MIM:620386 |
NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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G |
ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
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IAGP |
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HPO |
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MIM:620545 |
NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
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G |
ALAD |
aminolevulinate dehydratase |
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IAGP |
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HPO |
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ORPHA:100924 |
NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
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G |
ANO5 |
anoctamin 5 |
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IAGP |
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HPO |
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ORPHA:206549 |
NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
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G |
APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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G |
ATP5F1D |
ATP synthase F1 subunit delta |
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IAGP |
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HPO |
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MIM:618120 |
NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
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G |
C18orf32 |
chromosome 18 open reading frame 32 |
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IAGP |
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HPO |
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MIM:619985 |
NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252
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G |
C19orf12 |
chromosome 19 open reading frame 12 |
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IAGP |
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HPO |
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MIM:615043 |
NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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G |
CAPN3 |
calpain 3 |
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IAGP |
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HPO |
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ORPHA:267 |
NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
ClinVar Annotator: match by term: Contractures of the ankles ClinVar Annotator: match by term: Ankle contracture |
ClinVar |
PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 PMID:31680349 More...
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NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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G |
COG8 |
component of oligomeric golgi complex 8 |
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IAGP |
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HPO |
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MIM:611182 |
NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583
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G |
COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:536516 ORPHA:610 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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G |
COL25A1 |
collagen type XXV alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:1143 |
NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752
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G |
COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
|
HPO |
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ORPHA:610 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G |
COL6A2 |
collagen type VI alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:610 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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G |
COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:610 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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G |
DAG1 |
dystroglycan 1 |
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IAGP |
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HPO |
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MIM:613818 ORPHA:280333 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:618175 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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G |
DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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IAGP |
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HPO |
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MIM:608799 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:464311 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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G |
ERGIC1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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IAGP |
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HPO |
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ORPHA:1143 |
NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
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G |
ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
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HPO |
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ORPHA:209951 ORPHA:280384 |
NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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MIM:611228 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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G |
FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
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HPO |
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MIM:259450 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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G |
FLNA |
filamin A |
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IAGP |
|
HPO |
|
MIM:305620 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
HACD1 |
3-hydroxyacyl-CoA dehydratase 1 |
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IAGP |
|
HPO |
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ORPHA:2020 |
NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
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G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
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IAGP |
ClinVar Annotator: match by term: Ankle flexion contracture |
ClinVar |
PMID:25741868 PMID:27055666 PMID:31680349 |
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NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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G |
ITGA7 |
integrin subunit alpha 7 |
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IAGP |
|
HPO |
|
ORPHA:2020 |
NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
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G |
KLHL9 |
kelch like family member 9 |
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IAGP |
|
HPO |
|
ORPHA:399081 |
NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,320,024...21,335,404
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G |
LGI4 |
leucine rich repeat LGI family member 4 |
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IAGP |
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HPO |
|
MIM:617468 |
NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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G |
MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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IAGP |
|
HPO |
|
MIM:617760 ORPHA:2020 |
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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G |
MMP2 |
matrix metallopeptidase 2 |
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IAGP |
|
HPO |
|
MIM:259600 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MYL2 |
myosin light chain 2 |
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IAGP |
|
HPO |
|
ORPHA:2020 |
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
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G |
NEB |
nebulin |
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IAGP |
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HPO |
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ORPHA:399103 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
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G |
NFATC2 |
nuclear factor of activated T cells 2 |
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IAGP |
|
HPO |
|
MIM:620232 |
NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
|
HPO |
|
ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
NT5C2 |
5'-nucleotidase, cytosolic II |
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IAGP |
|
HPO |
|
ORPHA:320396 |
NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
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G |
ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
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IAGP |
|
HPO |
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MIM:615883 |
NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
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HPO |
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MIM:619621 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:319514 |
NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
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G |
PSAT1 |
phosphoserine aminotransferase 1 |
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IAGP |
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HPO |
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ORPHA:284417 |
NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
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PUS3 |
pseudouridine synthase 3 |
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IAGP |
ClinVar Annotator: match by term: Ankle flexion contracture |
ClinVar |
PMID:25741868 PMID:27055666 PMID:31680349 |
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NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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RPL10 |
ribosomal protein L10 |
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IAGP |
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HPO |
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ORPHA:435938 |
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
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G |
RTTN |
rotatin |
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IAGP |
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HPO |
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ORPHA:468631 |
NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
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RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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MIM:117000 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SCYL2 |
SCY1 like pseudokinase 2 |
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IAGP |
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HPO |
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ORPHA:1143 |
NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715
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SELENON |
selenoprotein N |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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SGCA |
sarcoglycan alpha |
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IAGP |
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HPO |
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MIM:608099 |
NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
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SLC1A4 |
solute carrier family 1 member 4 |
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IAGP |
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HPO |
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MIM:616657 |
NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
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SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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IAGP |
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HPO |
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MIM:616668 |
NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
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G |
SPTBN4 |
spectrin beta, non-erythrocytic 4 |
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IAGP |
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HPO |
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MIM:617519 |
NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
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SVIL |
supervillin |
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IAGP |
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HPO |
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MIM:619040 |
NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
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G |
SYT2 |
synaptotagmin 2 |
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IAGP |
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HPO |
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MIM:619461 |
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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G |
TAMM41 |
TAM41 mitochondrial translocator assembly and maintenance homolog |
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IAGP |
ClinVar Annotator: match by term: Ankle flexion contracture ClinVar Annotator: match by term: Ankle contracture |
ClinVar |
PMID:35321494 |
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NCBI chr 3:11,721,896...11,846,885
Ensembl chr 3:11,790,442...11,846,919
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TOR1AIP1 |
torsin 1A interacting protein 1 |
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IAGP |
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HPO |
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MIM:617072 |
NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077
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G |
TPM2 |
tropomyosin 2 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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G |
TPM3 |
tropomyosin 3 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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UBA1 |
ubiquitin like modifier activating enzyme 1 |
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IAGP |
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HPO |
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ORPHA:1145 |
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
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G |
VARS1 |
valyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:617802 |
NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752
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ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
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IAGP |
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HPO |
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MIM:620025 |
NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
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GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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MIM:600001 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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G |
NDUFAF5 |
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
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IAGP |
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HPO |
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MIM:618238 |
NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580
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G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
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IAGP |
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HPO |
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MIM:618901 |
NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
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G |
WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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MIM:608978 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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CDC42BPB |
CDC42 binding protein kinase beta |
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IAGP |
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HPO |
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MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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G |
WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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MIM:608978 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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ABCC8 |
ATP binding cassette subfamily C member 8 |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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G |
AC026369.1 |
novel transcript, antisense to IQSEC3 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:137,411...149,169
Ensembl chr12:137,411...149,169
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G |
ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
HPO ClinVar |
PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 |
MIM:161800 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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G |
ACTC1 |
actin alpha cardiac muscle 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis |
ClinVar |
PMID:36945405 |
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NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
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G |
ADGRG6 |
adhesion G protein-coupled receptor G6 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:26004201 PMID:26752647 |
MIM:616503 |
NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
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G |
ADSS1 |
adenylosuccinate synthase 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 |
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NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325
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G |
AGRN |
agrin |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
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G |
AGTPBP1 |
ATP/GTP binding carboxypeptidase 1 |
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IAGP |
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HPO |
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ORPHA:2254 |
NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
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G |
ALDH5A1 |
aldehyde dehydrogenase 5 family member A1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207
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G |
ALG3 |
ALG3 alpha-1,3- mannosyltransferase |
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IAGP |
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HPO |
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MIM:601110 ORPHA:79321 |
NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
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G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 |
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NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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G |
ASCC1 |
activating signal cointegrator 1 complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 |
MIM:616867 |
NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134
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G |
ASPM |
assembly factor for spindle microtubules |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
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G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:28492532 PMID:30690204 |
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NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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G |
ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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AUTS2 |
activator of transcription and developmental regulator AUTS2 |
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IAGP |
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HPO |
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MIM:615834 ORPHA:352490 |
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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G |
AVEN |
apoptosis and caspase activation inhibitor |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital |
ClinVar HPO |
PMID:25741868 PMID:30054298 |
MIM:618291 |
NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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G |
BLTP1 |
bridge-like lipid transfer protein family member 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:31680123 |
MIM:617822 |
NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
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G |
CACNA1E |
calcium voltage-gated channel subunit alpha1 E |
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IAGP |
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HPO |
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MIM:618285 |
NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262
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G |
CDK5 |
cyclin dependent kinase 5 |
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IAGP |
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HPO |
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MIM:616342 |
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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CEP55 |
centrosomal protein 55 |
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IAGP |
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HPO |
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MIM:236500 |
NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092
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G |
CFL2 |
cofilin 2 |
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IAGP |
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HPO |
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ORPHA:171436 |
NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
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G |
CHAT |
choline O-acetyltransferase |
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IAGP |
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HPO |
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MIM:254210 ORPHA:98914 |
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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G |
CHMP1A |
charged multivesicular body protein 1A |
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IAGP |
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HPO |
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MIM:614961 |
NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
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G |
CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
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IAGP |
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HPO |
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MIM:608930 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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G |
CHRND |
cholinergic receptor nicotinic delta subunit |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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G |
CHRNE |
cholinergic receptor nicotinic epsilon subunit |
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IAGP |
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HPO |
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MIM:608931 |
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
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HPO |
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MIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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G |
CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
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HPO |
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MIM:601776 ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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G |
CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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MIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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G |
CNTNAP1 |
contactin associated protein 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:31680123 |
MIM:618186 |
NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993
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G |
COL13A1 |
collagen type XIII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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G |
COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
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HPO |
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MIM:158810 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G |
DHCR24 |
24-dehydrocholesterol reductase |
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IAGP |
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HPO |
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MIM:602398 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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G |
DOK7 |
docking protein 7 |
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IAGP |
|
HPO |
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ORPHA:994 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
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G |
DQX1 |
DEAQ-box RNA dependent ATPase 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:74,518,131...74,526,231
Ensembl chr 2:74,518,131...74,526,281
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G |
DSE |
dermatan sulfate epimerase |
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IAGP |
|
HPO |
|
ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
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G |
EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
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G |
ECEL1 |
endothelin converting enzyme like 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar Annotator: match by term: Arthrogryposis, congenital |
ClinVar |
PMID:25741868 PMID:31694722 |
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NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
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G |
ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
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IAGP |
|
HPO |
|
MIM:243180 MIM:607598 |
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
|
HPO |
|
MIM:610758 ORPHA:1466 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
|
HPO |
|
ORPHA:1466 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
|
HPO |
|
MIM:616570 ORPHA:1466 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
|
HPO |
|
MIM:214150 ORPHA:1466 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERGIC1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:28317099 PMID:31230720 |
MIM:208100 |
NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
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G |
EXOC7 |
exocyst complex component 7 |
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IAGP |
|
HPO |
|
MIM:619072 |
NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576
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G |
EXOSC3 |
exosome component 3 |
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IAGP |
|
HPO |
|
ORPHA:2254 |
NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117
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G |
EXOSC8 |
exosome component 8 |
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IAGP |
|
HPO |
|
ORPHA:2254 |
NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881
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G |
EXOSC9 |
exosome component 9 |
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IAGP |
|
HPO |
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ORPHA:2254 |
NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
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G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
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IAGP |
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HPO |
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MIM:259775 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
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G |
FBLN1 |
fibulin 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135
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G |
FBN2 |
fibrillin 2 |
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IAGP |
|
HPO |
|
ORPHA:115 |
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
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G |
FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
|
HPO |
|
ORPHA:2771 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
|
HPO |
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MIM:608013 ORPHA:77260 ORPHA:85212 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GBE1 |
1,4-alpha-glucan branching enzyme 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:31680123 |
MIM:232500 |
NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645
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G |
GCK |
glucokinase |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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G |
GCN1 |
GCN1 activator of EIF2AK4 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:120,127,202...120,194,715
Ensembl chr12:120,127,202...120,194,715
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G |
GFM2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
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IAGP |
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HPO |
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MIM:618397 |
NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147
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G |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
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IAGP |
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HPO |
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MIM:608931 |
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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G |
GFRA4 |
GDNF family receptor alpha 4 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr20:3,659,248...3,663,399
Ensembl chr20:3,659,248...3,663,399
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G |
GJD2-DT |
GJD2 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis |
ClinVar |
PMID:36945405 |
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NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505
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G |
GLDN |
gliomedin |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 |
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NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005
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G |
GLE1 |
GLE1 RNA export mediator |
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IAGP |
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HPO |
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MIM:253310 MIM:611890 |
NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
|
HPO |
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MIM:252500 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
IBA57 |
iron-sulfur cluster assembly factor IBA57 |
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IAGP |
|
HPO |
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MIM:615330 |
NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257
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G |
INS |
insulin |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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G |
IQSEC3 |
IQ motif and Sec7 domain ArfGEF 3 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:66,767...178,455
Ensembl chr12:66,767...178,455
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G |
IQSEC3-AS1 |
IQSEC3 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:164,620...182,408
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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MIM:226730 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
KAT6B |
lysine acetyltransferase 6B |
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IAGP |
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HPO |
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ORPHA:85201 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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G |
KBTBD13 |
kelch repeat and BTB domain containing 13 |
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IAGP |
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HPO |
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ORPHA:171439 |
NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948
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G |
KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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G |
KIDINS220 |
kinase D interacting substrate 220 |
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IAGP |
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HPO |
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MIM:619501 |
NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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G |
KIF14 |
kinesin family member 14 |
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IAGP |
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HPO |
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MIM:616258 |
NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751
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G |
KIF21A |
kinesin family member 21A |
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IAGP |
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HPO |
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ORPHA:994 |
NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
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G |
KIF5C |
kinesin family member 5C |
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IAGP |
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HPO |
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MIM:615282 |
NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
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G |
KLHL40 |
kelch like family member 40 |
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IAGP |
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HPO |
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ORPHA:171430 |
NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544
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G |
KLHL41 |
kelch like family member 41 |
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IAGP |
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HPO |
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MIM:615731 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
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G |
LAMA5 |
laminin subunit alpha 5 |
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IAGP |
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HPO |
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MIM:620076 |
NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
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G |
LGI4 |
leucine rich repeat LGI family member 4 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:31680123 |
MIM:617468 |
NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:1662 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LMOD3 |
leiomodin 3 |
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IAGP |
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HPO |
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ORPHA:171430 ORPHA:171436 |
NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032
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G |
LOC125177481 |
Sharpr-MPRA regulatory region 245 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr17:42,683,771...42,684,065
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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MIM:605275 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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MIM:615547 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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G |
MAGI3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 1:113,390,515...113,685,923
Ensembl chr 1:113,390,515...113,685,923
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G |
MTRFR |
mitochondrial translation release factor in rescue |
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IAGP |
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HPO |
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ORPHA:320375 |
NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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G |
MUSK |
muscle associated receptor tyrosine kinase |
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IAGP |
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HPO |
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MIM:208150 ORPHA:994 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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G |
MYBPC1 |
myosin binding protein C1 |
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IAGP |
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HPO |
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MIM:614335 |
NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028
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G |
MYH3 |
myosin heavy chain 3 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
MIM:178110 ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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G |
MYH8 |
myosin heavy chain 8 |
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IAGP |
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HPO |
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MIM:158300 |
NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950
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G |
MYO9A |
myosin IXA |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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G |
MYOD1 |
myogenic differentiation 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital |
ClinVar HPO |
PMID:31260566 |
ORPHA:994 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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G |
MYPN |
myopalladin |
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IAGP |
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HPO |
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ORPHA:171439 |
NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
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G |
NAGA |
alpha-N-acetylgalactosaminidase |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
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G |
NALCN |
sodium leak channel, non-selective |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:27214504 PMID:31680123 |
ORPHA:562528 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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G |
NEB |
nebulin |
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IAGP |
|
HPO |
|
MIM:256030 MIM:619334 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
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G |
NEK9 |
NIMA related kinase 9 |
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IAGP |
|
HPO |
|
MIM:614262 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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G |
NUP88 |
nucleoporin 88 |
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IAGP |
|
HPO |
|
MIM:618393 ORPHA:994 |
NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164
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G |
OTUD5 |
OTU deubiquitinase 5 |
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IAGP |
|
HPO |
|
MIM:301056 |
NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386
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G |
PDX1 |
pancreatic and duodenal homeobox 1 |
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IAGP |
|
HPO |
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ORPHA:99885 |
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
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G |
PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
|
HPO |
|
MIM:616531 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 PMID:39033378 More...
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MIM:114300 ORPHA:2461 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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G |
PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
|
HPO |
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MIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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G |
PIP5K1C |
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma |
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IAGP |
|
HPO |
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MIM:611369 |
NCBI chr19:3,630,183...3,700,468
Ensembl chr19:3,630,183...3,700,468
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G |
PLEC |
plectin |
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IAGP |
|
HPO |
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MIM:226730 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
PLOD2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
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IAGP |
|
HPO |
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ORPHA:2771 |
NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725
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G |
PLXND1 |
plexin D1 |
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IAGP |
|
HPO |
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ORPHA:570 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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IAGP |
|
HPO |
|
MIM:618265 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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G |
PRG4 |
proteoglycan 4 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567
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G |
PRICKLE1 |
prickle planar cell polarity protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355
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G |
RAPSN |
receptor associated protein of the synapse |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:14504330 PMID:16945936 PMID:22678886 PMID:25741868 PMID:28492532 PMID:30124556 PMID:31680123 More...
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MIM:616326 ORPHA:994 |
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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G |
REV3L |
REV3 like, DNA directed polymerase zeta catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:570 |
NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
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G |
RFT1 |
RFT1 homolog |
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IAGP |
|
HPO |
|
ORPHA:244310 |
NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453
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G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
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IAGP |
|
HPO |
|
MIM:263650 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:19454545 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23826317 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:28818389 PMID:30236257 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
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NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
RYR3 |
ryanodine receptor 3 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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|
G |
RYR3-DT |
RYR3 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:33,303,657...33,310,659
Ensembl chr15:33,293,492...33,310,696
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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|
G |
SCN5A |
sodium voltage-gated channel alpha subunit 5 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 |
|
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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G |
SCN8A |
sodium voltage-gated channel alpha subunit 8 |
|
IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
|
NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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G |
SCYL2 |
SCY1 like pseudokinase 2 |
|
IAGP |
|
HPO |
|
MIM:618766 |
NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715
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G |
SENP7 |
SUMO specific peptidase 7 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 |
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NCBI chr 3:101,324,205...101,513,212
Ensembl chr 3:101,324,205...101,513,241
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SEPSECS |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital |
ClinVar |
PMID:25741868 |
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NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
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SETBP1 |
SET binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
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NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26794302 PMID:28492532 PMID:28518168 PMID:32461654 PMID:37091313 More...
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NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
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SHPK |
sedoheptulokinase |
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IAGP |
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HPO |
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ORPHA:440713 |
NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250
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SLC18A3 |
solute carrier family 18 member A3 |
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IAGP |
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HPO |
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ORPHA:98914 ORPHA:994 |
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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SLC25A1 |
solute carrier family 25 member 1 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
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SLC25A46 |
solute carrier family 25 member 46 |
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IAGP |
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HPO |
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ORPHA:2254 |
NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
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SLC35A3 |
solute carrier family 35 member A3 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
MIM:615553 |
NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634
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SLC5A7 |
solute carrier family 5 member 7 |
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IAGP |
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HPO |
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MIM:617143 ORPHA:98914 |
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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SLC6A9 |
solute carrier family 6 member 9 |
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IAGP |
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HPO |
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MIM:617301 |
NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467
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SLC9A6 |
solute carrier family 9 member A6 |
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IAGP |
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HPO |
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ORPHA:85278 |
NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269
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SMPD4 |
sphingomyelin phosphodiesterase 4 |
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IAGP |
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HPO |
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MIM:618622 |
NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750
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SNAP25 |
synaptosome associated protein 25 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
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SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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MIM:609136 ORPHA:163746 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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SPAG16 |
sperm associated antigen 16 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:213,284,464...214,410,501
Ensembl chr 2:213,284,389...214,410,501
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STAC3 |
SH3 and cysteine rich domain 3 |
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IAGP |
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HPO |
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ORPHA:168572 |
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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SYNE1 |
spectrin repeat containing nuclear envelope protein 1 |
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IAGP |
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HPO |
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MIM:618484 ORPHA:319332 |
NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
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SYT2 |
synaptotagmin 2 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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TBCD |
tubulin folding cofactor D |
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IAGP |
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HPO |
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MIM:617193 ORPHA:496641 |
NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
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TMPO |
thymopoietin |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351
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TNNI2 |
troponin I2, fast skeletal type |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:25741868 |
MIM:601680 |
NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
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TNNT3 |
troponin T3, fast skeletal type |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706
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TOR1A |
torsin family 1 member A |
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IAGP |
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HPO |
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MIM:618947 |
NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
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TPM2 |
tropomyosin 2 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar HPO |
PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 |
MIM:108120 ORPHA:171436 ORPHA:171439 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TPM3 |
tropomyosin 3 |
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IAGP |
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HPO |
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ORPHA:171433 ORPHA:171439 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
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HPO |
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MIM:617598 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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TRIP4 |
thyroid hormone receptor interactor 4 |
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IAGP |
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HPO |
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MIM:616866 |
NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:156530 MIM:600175 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TSEN54 |
tRNA splicing endonuclease subunit 54 |
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IAGP |
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HPO |
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ORPHA:166063 |
NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
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TUBA1A |
tubulin alpha 1a |
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IAGP |
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HPO |
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ORPHA:994 |
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
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UBA1 |
ubiquitin like modifier activating enzyme 1 |
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IAGP |
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HPO |
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MIM:301830 ORPHA:1145 |
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
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UNC50 |
unc-50 inner nuclear membrane RNA binding protein |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:98,608,589...98,618,515
Ensembl chr 2:98,608,579...98,618,515
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VAMP1 |
vesicle associated membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
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VIPAS39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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IAGP |
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HPO |
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MIM:613404 |
NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952
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VPS13D |
vacuolar protein sorting 13 homolog D |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31680123 |
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NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
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VPS33B |
VPS33B late endosome and lysosome associated |
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IAGP |
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HPO |
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MIM:208085 |
NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603
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VRK1 |
VRK serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2254 |
NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
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ZBTB42 |
zinc finger and BTB domain containing 42 |
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IAGP |
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HPO |
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MIM:616248 |
NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712
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ZC4H2 |
zinc finger C4H2-type containing |
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IAGP |
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HPO |
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MIM:314580 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZNF335 |
zinc finger protein 335 |
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IAGP |
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HPO |
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MIM:615095 |
NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203
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ZNF875 |
zinc finger protein 875 |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita |
ClinVar |
PMID:25741868 PMID:31680123 |
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NCBI chr19:37,312,837...37,364,455
Ensembl chr19:37,312,837...37,369,365
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ZNHIT3 |
zinc finger HIT-type containing 3 |
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IAGP |
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HPO |
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ORPHA:2836 |
NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310
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CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
ClinVar Annotator: match by term: Arthrogryposis-like hand anomaly |
ClinVar |
PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 PMID:31680349 More...
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NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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MED13L |
mediator complex subunit 13L |
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IAGP |
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HPO |
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ORPHA:369891 |
NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
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REEP1 |
receptor accessory protein 1 |
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IAGP |
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HPO |
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MIM:620011 |
NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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MIM:182410 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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MIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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AEBP1 |
AE binding protein 1 |
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IAGP |
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HPO |
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MIM:618000 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:615349 ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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MIM:130070 ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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C1R |
complement C1r |
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IAGP |
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HPO |
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MIM:130080 ORPHA:75392 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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C1S |
complement C1s |
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IAGP |
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HPO |
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ORPHA:75392 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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CARMIL2 |
capping protein regulator and myosin 1 linker 2 |
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IAGP |
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HPO |
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MIM:618131 |
NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
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CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
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HPO |
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MIM:601776 ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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MIM:616471 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79402 ORPHA:79406 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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MIM:130060 ORPHA:287 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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MIM:225320 MIM:617821 ORPHA:230851 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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MIM:618343 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
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HPO |
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MIM:619329 ORPHA:287 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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COL5A2 |
collagen type V alpha 2 chain |
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IAGP |
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HPO |
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MIM:130010 ORPHA:287 |
NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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MIM:131705 MIM:131750 MIM:131850 MIM:226600 ORPHA:231568 ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 ORPHA:89843 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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MIM:615539 ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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DST |
dystonin |
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IAGP |
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HPO |
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MIM:615425 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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FKBP14 |
FKBP prolyl isomerase 14 |
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IAGP |
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HPO |
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MIM:614557 ORPHA:300179 |
NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702
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FLG |
filaggrin |
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IAGP |
ClinVar Annotator: match by term: Thin, atrophic scars |
ClinVar |
PMID:25741868 |
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NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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MIM:226730 ORPHA:158684 ORPHA:79402 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KRT14 |
keratin 14 |
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IAGP |
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HPO |
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MIM:131760 ORPHA:79396 ORPHA:79400 ORPHA:89838 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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MIM:131760 ORPHA:79396 ORPHA:79400 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:226700 ORPHA:79402 |
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
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HPO |
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MIM:226700 ORPHA:79402 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LAMC2 |
laminin subunit gamma 2 |
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IAGP |
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HPO |
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MIM:226700 ORPHA:79402 |
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
|
HPO |
|
ORPHA:79100 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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G |
MMP1 |
matrix metallopeptidase 1 |
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IAGP |
|
HPO |
|
MIM:226600 ORPHA:79408 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
PLEC |
plectin |
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IAGP |
|
HPO |
|
MIM:226730 ORPHA:158684 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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G |
SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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MIM:613795 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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TNXB |
tenascin XB |
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IAGP |
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HPO |
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MIM:606408 |
NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
ClinVar Annotator: match by term: Atrophodermia vermiculata |
ClinVar |
PMID:26142438 |
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NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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NLRP1 |
NLR family pyrin domain containing 1 |
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IAGP |
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HPO |
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MIM:618803 |
NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
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AEBP1 |
AE binding protein 1 |
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IAGP |
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HPO |
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MIM:618000 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:198 ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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C1S |
complement C1s |
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IAGP |
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HPO |
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MIM:617174 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:251393 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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MIM:618343 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:231568 ORPHA:79410 ORPHA:89842 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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CPOX |
coproporphyrinogen oxidase |
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IAGP |
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HPO |
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ORPHA:79273 |
NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
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EPHB4 |
EPH receptor B4 |
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IAGP |
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HPO |
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ORPHA:90186 |
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:133540 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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MIM:216400 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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ORPHA:2908 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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IPO8 |
importin 8 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:251393 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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LSS |
lanosterol synthase |
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IAGP |
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HPO |
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ORPHA:1366 |
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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NCSTN |
nicastrin |
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IAGP |
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HPO |
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MIM:142690 |
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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IAGP |
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HPO |
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ORPHA:642 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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ORPHA:284984 ORPHA:60030 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 ORPHA:1297 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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G |
TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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G |
TGFBR1 |
transforming growth factor beta receptor 1 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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UROS |
uroporphyrinogen III synthase |
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IAGP |
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HPO |
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MIM:263700 |
NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288
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ZNF469 |
zinc finger protein 469 |
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IAGP |
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HPO |
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MIM:229200 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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G |
FBXO11 |
F-box protein 11 |
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IAGP |
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HPO |
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MIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
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G |
FBXO28 |
F-box protein 28 |
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IAGP |
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HPO |
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MIM:619777 |
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
POLR3GL |
RNA polymerase III subunit GL |
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IAGP |
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HPO |
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MIM:619234 |
NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848
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G |
ZNF407 |
zinc finger protein 407 |
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IAGP |
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HPO |
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MIM:619557 |
NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
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HPO |
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ORPHA:209951 |
NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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G |
PAX3 |
paired box 3 |
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IAGP |
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HPO |
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MIM:148820 |
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IAGP |
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HPO |
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MIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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G |
ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:608104 ORPHA:79325 |
NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
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G |
ALX3 |
ALX homeobox 3 |
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IAGP |
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HPO |
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MIM:136760 |
NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
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G |
AMER1 |
APC membrane recruitment protein 1 |
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IAGP |
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HPO |
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MIM:300373 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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G |
ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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MIM:309510 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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MIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
ATAD1 |
ATPase family AAA domain containing 1 |
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IAGP |
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HPO |
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MIM:618011 |
NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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MIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
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IAGP |
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HPO |
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MIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
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G |
ATPAF2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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IAGP |
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HPO |
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MIM:604273 |
NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209
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B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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MIM:614175 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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G |
BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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MIM:309800 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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G |
BGN |
biglycan |
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IAGP |
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HPO |
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MIM:300989 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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G |
BHLHA9 |
basic helix-loop-helix family member a9 |
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IAGP |
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HPO |
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MIM:607539 |
NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
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G |
BLTP1 |
bridge-like lipid transfer protein family member 1 |
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IAGP |
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HPO |
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MIM:617822 |
NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
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G |
BRPF1 |
bromodomain and PHD finger containing 1 |
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IAGP |
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HPO |
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MIM:617333 |
NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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IAGP |
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HPO |
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MIM:620029 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G |
CCBE1 |
collagen and calcium binding EGF domains 1 |
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IAGP |
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HPO |
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MIM:235510 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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G |
CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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MIM:300963 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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G |
CCDC32 |
coiled-coil domain containing 32 |
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IAGP |
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HPO |
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MIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
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G |
CCN6 |
cellular communication network factor 6 |
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IAGP |
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HPO |
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ORPHA:1159 |
NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
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G |
CDC42 |
cell division cycle 42 |
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IAGP |
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HPO |
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MIM:616737 ORPHA:487796 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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G |
CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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MIM:225280 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
CDK13 |
cyclin dependent kinase 13 |
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IAGP |
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HPO |
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MIM:617360 |
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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G |
CHN1 |
chimerin 1 |
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IAGP |
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HPO |
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ORPHA:233 |
NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
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G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
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HPO |
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MIM:265000 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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G |
CNTN1 |
contactin 1 |
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IAGP |
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HPO |
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MIM:612540 |
NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
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G |
COG1 |
component of oligomeric golgi complex 1 |
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IAGP |
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HPO |
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MIM:611209 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
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G |
COG8 |
component of oligomeric golgi complex 8 |
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IAGP |
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HPO |
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MIM:611182 |
NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583
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G |
COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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MIM:228520 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
|
HPO |
|
MIM:618343 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
CRLF1 |
cytokine receptor like factor 1 |
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IAGP |
|
HPO |
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MIM:272430 |
NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
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G |
CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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MIM:615502 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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G |
DCHS1 |
dachsous cadherin-related 1 |
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IAGP |
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HPO |
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MIM:601390 ORPHA:314679 |
NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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G |
DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
|
HPO |
|
ORPHA:254528 ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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G |
DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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IAGP |
|
HPO |
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ORPHA:86309 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
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G |
DPH1 |
diphthamide biosynthesis 1 |
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IAGP |
|
HPO |
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ORPHA:459061 |
NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
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G |
DPH2 |
diphthamide biosynthesis 2 |
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IAGP |
|
HPO |
|
ORPHA:459061 |
NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
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G |
DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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IAGP |
|
HPO |
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MIM:608799 ORPHA:79322 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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G |
DRG1 |
developmentally regulated GTP binding protein 1 |
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IAGP |
|
HPO |
|
MIM:620641 |
NCBI chr22:31,399,604...31,434,452
Ensembl chr22:31,399,604...31,528,740
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G |
DSE |
dermatan sulfate epimerase |
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IAGP |
|
HPO |
|
MIM:615539 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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G |
DUSP6 |
dual specificity phosphatase 6 |
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IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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G |
DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
|
HPO |
|
MIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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G |
DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
|
HPO |
|
MIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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G |
DYM |
dymeclin |
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IAGP |
|
HPO |
|
MIM:223800 |
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
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G |
ECEL1 |
endothelin converting enzyme like 1 |
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IAGP |
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HPO |
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MIM:615065 |
NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
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EED |
embryonic ectoderm development |
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IAGP |
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HPO |
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MIM:617561 |
NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807
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EPB41L1 |
erythrocyte membrane protein band 4.1 like 1 |
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IAGP |
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HPO |
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MIM:614257 |
NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:214150 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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EXOSC5 |
exosome component 5 |
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IAGP |
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HPO |
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MIM:619576 |
NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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MIM:277590 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FAT4 |
FAT atypical cadherin 4 |
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IAGP |
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HPO |
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MIM:616006 ORPHA:314679 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:154700 MIM:184900 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FBN2 |
fibrillin 2 |
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IAGP |
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HPO |
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MIM:121050 |
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
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FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
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IAGP |
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HPO |
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MIM:305400 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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FGF17 |
fibroblast growth factor 17 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:207410 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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MIM:610474 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FHL1 |
four and a half LIM domains 1 |
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IAGP |
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HPO |
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MIM:300280 |
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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FIBP |
FGF1 intracellular binding protein |
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IAGP |
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HPO |
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ORPHA:500095 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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FLNA |
filamin A |
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IAGP |
DNA:deletion:cds:c.4904_4912del (human) |
HPO RGD |
PMID:15654694 |
ORPHA:88630, RGD:11565126 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FLVCR1 |
FLVCR choline and heme transporter 1 |
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IAGP |
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HPO |
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MIM:609033 ORPHA:88628 |
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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GLDN |
gliomedin |
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IAGP |
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HPO |
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MIM:617194 |
NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005
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GLUL |
glutamate-ammonia ligase |
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IAGP |
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HPO |
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MIM:610015 |
NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
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GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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MIM:252500 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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GNRH1 |
gonadotropin releasing hormone 1 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
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GNRHR |
gonadotropin releasing hormone receptor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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GORAB |
golgin, RAB6 interacting |
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IAGP |
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HPO |
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MIM:231070 |
NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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MIM:301026 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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H1-4 |
H1.4 linker histone, cluster member |
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IAGP |
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HPO |
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MIM:617537 |
NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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MIM:610713 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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MIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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IL6ST |
interleukin 6 cytokine family signal transducer |
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IAGP |
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HPO |
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MIM:619751 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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ITCH |
itchy E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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MIM:613385 ORPHA:228426 |
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
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KIF15 |
kinesin family member 15 |
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IAGP |
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HPO |
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ORPHA:261323 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KISS1 |
KiSS-1 metastasis suppressor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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KISS1R |
KISS1 receptor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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KLHL7 |
kelch like family member 7 |
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IAGP |
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HPO |
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MIM:617055 |
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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KRT1 |
keratin 1 |
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IAGP |
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HPO |
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ORPHA:2199 |
NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
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KRT16 |
keratin 16 |
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IAGP |
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HPO |
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ORPHA:2199 |
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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KRT9 |
keratin 9 |
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IAGP |
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HPO |
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ORPHA:2199 |
NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:618019 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LGI4 |
leucine rich repeat LGI family member 4 |
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IAGP |
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HPO |
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MIM:617468 |
NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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MIM:601559 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LMBRD2 |
LMBR1 domain containing 2 |
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IAGP |
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HPO |
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MIM:619694 |
NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:248370 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MAF |
MAF bZIP transcription factor |
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IAGP |
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HPO |
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MIM:601088 ORPHA:1272 |
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
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MAFB |
MAF bZIP transcription factor B |
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IAGP |
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HPO |
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ORPHA:233 |
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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MIM:615547 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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MIM:617137 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:305450 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED13L |
mediator complex subunit 13L |
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IAGP |
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HPO |
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ORPHA:369891 |
NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
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