Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22995
Gene Symbol: CEP152
CEP152 		0.100 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker disease HPO
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.120 GeneticVariation disease BEFREE The literature documents numerous private mutations in COL2A1 associated with diverse clinical phenotypes including bilateral hip dysplasia and premature osteoarthritis. 21442341 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.120 GeneticVariation disease BEFREE Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. 30740902 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.120 GeneticVariation disease CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.100 Biomarker disease HPO
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.100 Biomarker disease HPO
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		0.100 Biomarker disease HPO
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.100 Biomarker disease HPO
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		0.010 GeneticVariation disease BEFREE The SNP adjacent to DICER1 also showed osteoblast cis-regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia. 30320955 2019
Entrez Id: 1855
Gene Symbol: DVL1
DVL1 		0.100 Biomarker disease HPO
Entrez Id: 1857
Gene Symbol: DVL3
DVL3 		0.100 Biomarker disease HPO
Entrez Id: 10682
Gene Symbol: EBP
EBP 		0.100 Biomarker disease HPO
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 Biomarker disease HPO
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.100 Biomarker disease HPO
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.010 Biomarker disease BEFREE Hip dysplasia in three family members suggests a role for FOXC1 in the femoral head dysplasia of de Hauwere syndrome with 6p25 deletions. 23239455 2013
Entrez Id: 2535
Gene Symbol: FZD2
FZD2 		0.100 Biomarker disease HPO
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		0.100 Biomarker disease HPO
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.100 Biomarker disease HPO
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.010 Biomarker disease BEFREE Evolution of Hip Dysplasia in Pediatric Patients With Prader-Willi Syndrome Treated With Growth Hormone Early in Development. 31479030 2019
Entrez Id: 2733
Gene Symbol: GLE1
GLE1 		0.100 Biomarker disease HPO