Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.110 GeneticVariation disease BEFREE Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. 29887215 2018
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
0.110 CausalMutation disease CLINVAR
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
0.100 Biomarker disease HPO
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
0.100 Biomarker disease HPO
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
0.100 Biomarker disease HPO
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D
0.100 Biomarker disease HPO
Entrez Id: 5000
Gene Symbol: ORC4
ORC4
0.100 Biomarker disease HPO
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
0.100 CausalMutation disease CLINVAR
Entrez Id: 6651
Gene Symbol: SON
SON
0.100 Biomarker disease HPO
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.100 Biomarker disease HPO
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
0.100 Biomarker disease HPO
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.100 Biomarker disease HPO
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
0.100 Biomarker disease HPO
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
0.100 Biomarker disease HPO
Entrez Id: 89891
Gene Symbol: WDR34
WDR34
0.100 Biomarker disease HPO
Entrez Id: 55112
Gene Symbol: WDR60
WDR60
0.100 Biomarker disease HPO
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
0.100 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.100 Biomarker disease HPO
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.100 Biomarker disease HPO
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
0.100 Biomarker disease HPO
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
0.100 Biomarker disease HPO
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
0.100 Biomarker disease HPO