Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.200 None 1.000 0 2 1999 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.160 None 1.000 0 38 2011 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.130 None 1.000 0 1 2015 2017
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
exostosin like glycosyltransferase 3 0.599 0.731 2.5E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.120 None 1.000 0 1 2017 2017
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
dachsous cadherin-related 1 0.592 0.731 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 2
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 2
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 2
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 2