Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 10195
Gene Symbol: ALG3
ALG3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 10195
Gene Symbol: ALG3
ALG3
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

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: 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 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 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: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 440
Gene Symbol: ASNS
ASNS
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

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: 259266
Gene Symbol: ASPM
ASPM
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR

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