Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.700 GermlineCausalMutation ORPHANET

Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.690 GermlineCausalMutation ORPHANET

Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 6491
Gene Symbol: STIL
STIL
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.440 GermlineCausalMutation ORPHANET

Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 GermlineCausalMutation ORPHANET

Entrez Id: 11113
Gene Symbol: CIT
CIT
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.400 GermlineCausalMutation ORPHANET Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 27453578

2016
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.400 GermlineCausalMutation ORPHANET

Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 GermlineCausalMutation ORPHANET A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542

2014
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 GermlineCausalMutation ORPHANET

Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 GermlineCausalMutation ORPHANET

Entrez Id: 55262
Gene Symbol: MAP11
MAP11
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation ORPHANET Through genome-wide linkage analysis combined with whole exome sequencing, we demonstrate that human autosomal recessive primary microcephaly is caused by a truncating mutation in MAP11. 30715179

2019
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation ORPHANET We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu88*, c.2480_2482delTTG; p.Val827del, and c.4071G>A;p.Gln1357=) as the likely cause in 3 MCPH families. 28892560

2017
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation ORPHANET A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 25259927

2014
Entrez Id: 1021
Gene Symbol: CDK6
CDK6
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation ORPHANET CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. 23918663

2013
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation ORPHANET

Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation ORPHANET

Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360

2017
Entrez Id: 6884
Gene Symbol: TAF13
TAF13
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. 28257693

2017
Entrez Id: 9276
Gene Symbol: COPB2
COPB2
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. 29036432

2017
Entrez Id: 23310
Gene Symbol: NCAPD3
NCAPD3
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. 27737959

2016
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 26005868

2015
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865

2015
Entrez Id: 1911
Gene Symbol: PHC1
PHC1
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET