Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation CLINVAR

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 GeneticVariation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322

2019
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972

2018
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR

Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 CausalMutation CLINVAR

Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR

Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation CLINVAR