Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		0.400 Biomarker disease GENOMICS_ENGLAND De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		0.400 CausalMutation disease CLINVAR
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		0.300 Biomarker disease GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		0.300 Biomarker disease GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
Entrez Id: 1024
Gene Symbol: CDK8
CDK8 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 30905399 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: 197258
Gene Symbol: FCSK
FCSK 		0.300 Biomarker disease GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518 2018
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A 		0.100 Biomarker disease HPO
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.100 Biomarker disease HPO
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		0.100 Biomarker disease HPO
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3 		0.100 Biomarker disease HPO
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		0.100 Biomarker disease HPO
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.100 Biomarker disease HPO
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A 		0.100 Biomarker disease HPO
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1 		0.100 Biomarker disease HPO
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.100 Biomarker disease HPO
Entrez Id: 64801
Gene Symbol: ARV1
ARV1 		0.100 Biomarker disease HPO
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		0.100 Biomarker disease HPO
Entrez Id: 3060
Gene Symbol: HCRT
HCRT 		0.100 Biomarker disease HPO
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2 		0.100 Biomarker disease HPO
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		0.100 Biomarker disease HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 Biomarker disease HPO