Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22884
Gene Symbol: WDR37
WDR37 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 31327508 2019
Entrez Id: 9488
Gene Symbol: PIGB
PIGB 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 31256876 2019
Entrez Id: 162
Gene Symbol: AP1B1
AP1B1 		0.300 Biomarker disease GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
Entrez Id: 10297
Gene Symbol: APC2
APC2 		0.300 Biomarker disease GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669 2012
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.100 CausalMutation disease CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 3643
Gene Symbol: INSR
INSR 		0.100 Biomarker disease HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		0.100 Biomarker disease HPO
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG 		0.100 Biomarker disease HPO
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.100 Biomarker disease HPO
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3081
Gene Symbol: HGD
HGD 		0.100 Biomarker disease HPO
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.100 Biomarker disease HPO
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.100 Biomarker disease HPO
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.100 Biomarker disease HPO
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		0.100 Biomarker disease HPO
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.100 Biomarker disease HPO
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		0.100 Biomarker disease HPO
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.100 Biomarker disease HPO
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.100 Biomarker disease HPO
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.100 Biomarker disease HPO
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		0.100 Biomarker disease HPO