Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1911
Gene Symbol: PHC1
PHC1
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.410 Biomarker GENOMICS_ENGLAND Molecular and cellular basis of autosomal recessive primary microcephaly. 25548773

2014

Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.390 Biomarker GENOMICS_ENGLAND

Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.370 Biomarker GENOMICS_ENGLAND

Entrez Id: 284403
Gene Symbol: WDR62
WDR62
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.370 Biomarker GENOMICS_ENGLAND

Entrez Id: 6491
Gene Symbol: STIL
STIL
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 Biomarker GENOMICS_ENGLAND STIL mutations have previously been linked to centrosomal defects in primary microcephaly at the MCPH7 locus. 25218063

2015

Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.350 Biomarker GENOMICS_ENGLAND RTTN mutations link primary cilia function to organization of the human cerebral cortex. 22939636

2012

Entrez Id: 57082
Gene Symbol: KNL1
KNL1
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.320 Biomarker GENOMICS_ENGLAND Kinetochore KMN network gene CASC5 mutated in primary microcephaly. 22983954

2012

Entrez Id: 93587
Gene Symbol: TRMT10A
TRMT10A
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.310 Biomarker GENOMICS_ENGLAND Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities. 26535115

2015

Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.310 Biomarker GENOMICS_ENGLAND A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296

2006

Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 26791357

2016

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. 26968164

2016

Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450

2015

Entrez Id: 10733
Gene Symbol: PLK4
PLK4
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 25344692

2014

Entrez Id: 1804
Gene Symbol: DPP6
DPP6
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. 23832105

2013

Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012

Entrez Id: 54820
Gene Symbol: NDE1
NDE1
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 21529752

2011

Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 10426
Gene Symbol: TUBGCP3
TUBGCP3
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 11113
Gene Symbol: CIT
CIT
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.300 Biomarker GENOMICS_ENGLAND