Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.610 Biomarker GENOMICS_ENGLAND TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769

2016

Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.600 Biomarker GENOMICS_ENGLAND CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450

2015

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.500 Biomarker GENOMICS_ENGLAND DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015

Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.470 Biomarker GENOMICS_ENGLAND DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.430 Biomarker GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140

2017

Entrez Id: 51569
Gene Symbol: UFM1
UFM1
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.420 Biomarker GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776

2018

Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.420 Biomarker GENOMICS_ENGLAND Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. 25758935

2015

Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.420 Biomarker GENOMICS_ENGLAND KIF14 may also be considered a candidate gene for allelic viable ciliary and/or microcephaly phenotypes. 24128419

2014

Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.420 Biomarker GENOMICS_ENGLAND A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296

2006

Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 Biomarker GENOMICS_ENGLAND NUP214 deficiency causes severe encephalopathy and microcephaly in humans. 30758658

2019

Entrez Id: 54517
Gene Symbol: PUS7
PUS7
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 Biomarker GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862

2018

Entrez Id: 7468
Gene Symbol: NSD2
NSD2
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 Biomarker GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530

2018

Entrez Id: 1063
Gene Symbol: CENPF
CENPF
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 Biomarker GENOMICS_ENGLAND The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. 25564561

2015

Entrez Id: 1781
Gene Symbol: DYNC1I2
DYNC1I2
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Our genetic and functional data indicate that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight further the critical roles of the dynein-1 complex in neurodevelopment. 31079899

2019

Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743

2018

Entrez Id: 51506
Gene Symbol: UFC1
UFC1
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776

2018

Entrez Id: 10056
Gene Symbol: FARSB
FARSB
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 30014610

2018

Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100

2017

Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. 28335020

2017

Entrez Id: 23397
Gene Symbol: NCAPH
NCAPH
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. 27737959

2016

Entrez Id: 83480
Gene Symbol: PUS3
PUS3
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. 27055666

2016

Entrez Id: 3376
Gene Symbol: IARS1
IARS1
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. 27426735

2016

Entrez Id: 10735
Gene Symbol: STAG2
STAG2
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604

2015

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.310 Biomarker GENOMICS_ENGLAND Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019