Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.200 CausalMutation CLINVAR

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.160 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.130 CausalMutation CLINVAR

Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.120 GeneticVariation CLINVAR

Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.110 CausalMutation CLINVAR

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.110 CausalMutation CLINVAR

Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.100 CausalMutation CLINVAR