DisGeNET - a database of gene-disease associations

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

N. diseases: 127; N. variants: 15

Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE ×

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:

rs879253817

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255522

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs886037895

Entrez Id:	11113
Gene Symbol:	CIT

CIT

CUI:	C4310723
Disease:

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR