Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.120 GeneticVariation CLINVAR

Entrez Id: 55325
Gene Symbol: UFSP2
UFSP2
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.110 CausalMutation CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 CausalMutation CLINVAR

Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 GeneticVariation CLINVAR