Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015
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: 282809
Gene Symbol: POC1B
POC1B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461

2014
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745

2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
Entrez Id: 3832
Gene Symbol: KIF11
KIF11
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 25124931

2014
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096

2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509

2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 19770472

2009
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. 10567047

1999
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

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: 9373
Gene Symbol: PLAA
PLAA
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

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