Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 57479
Gene Symbol: PRR12
PRR12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 11113
Gene Symbol: CIT
CIT
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 3832
Gene Symbol: KIF11
KIF11
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 25115524

2014
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 57038
Gene Symbol: RARS2
RARS2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 81857
Gene Symbol: MED25
MED25
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR