Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 55628
Gene Symbol: ZNF407
ZNF407
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 57647
Gene Symbol: DHX37
DHX37
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 5702
Gene Symbol: PSMC3
PSMC3
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 CausalMutation CLINVAR