Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.440 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.440 CausalMutation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.440 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 GeneticVariation disease CLINVAR
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.420 GeneticVariation disease CLINVAR
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.410 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.410 GeneticVariation disease CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322 2019
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.410 CausalMutation disease CLINVAR
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.410 CausalMutation disease CLINVAR
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		0.410 CausalMutation disease CLINVAR
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		0.400 GeneticVariation disease CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.400 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.400 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.400 GeneticVariation disease CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3 		0.400 CausalMutation disease CLINVAR
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		0.400 CausalMutation disease CLINVAR
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		0.400 GeneticVariation disease CLINVAR