DisGeNET - a database of gene-disease associations

CIT, citron rho-interacting serine/threonine kinase, 11113

N. diseases: 127; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886037892

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

27453578

2016

dbSNP:

rs886037892

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

27519304

2016

dbSNP:

rs886037892

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

27503289

2016

dbSNP:

rs886037892

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

27453579

2016

dbSNP:

rs886037893

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

27453579

2016

dbSNP:

rs886037893

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

27453578

2016

dbSNP:

rs886037893

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

27503289

2016

dbSNP:

rs886037893

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

27519304

2016

dbSNP:

rs886037894

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

27519304

2016

dbSNP:

rs886037894

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

27453578

2016

dbSNP:

rs886037894

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

27453579

2016

dbSNP:

rs886037894

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

27503289

2016

dbSNP:

rs886037892

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037893

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037894

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs11064881

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs17442937

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs17442937

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs203351

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs203351

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs278142

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs278142

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs11064881

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0009324
Disease:

Ulcerative Colitis

0.700

GeneticVariation

GWASCAT

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

26192919

2015

dbSNP:

rs11064881

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.700

GeneticVariation

GWASCAT

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

26192919

2015

dbSNP:

rs4767841

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C0150045
Disease:

Urge Incontinence

0.700

GeneticVariation

GWASCAT

Genetic contributions to urgency urinary incontinence in women.

25524241

2015