DisGeNET - a database of gene-disease associations

KIT, KIT proto-oncogene, receptor tyrosine kinase, 3815

N. diseases: 715; N. variants: 92

Disease: Cutaneous Mastocytosis ×

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:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

BEFREE

Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease.

30488427

2018

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

UNIPROT

A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

24289326

2014

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

UNIPROT

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

21689725

2011

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

UNIPROT

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

19865100

2010

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

BEFREE

In summary, we confirmed a high incidence of two distinct c-kit mutations, Asp8</span>16Val and Asp816Phe, in patients with childhood-onset cuta</span>neous mastocytosis.

15858149

2005

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

UNIPROT

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

15173254

2004

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

BEFREE

Asp-816-->Val with a subset of sporadic persistent (systemic) mastocytosis (mostly adults), and Gly-839-->Lys with (a subset of) typical pediatric (mostly cutaneous) mastocytosis.

10529583

1999

dbSNP:

rs121913507

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.730

GeneticVariation

UNIPROT

Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

9990072

1999

dbSNP:

rs121913506

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

24289326

2014

dbSNP:

rs121913509

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

24289326

2014

dbSNP:

rs121913506

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

21689725

2011

dbSNP:

rs121913509

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

21689725

2011

dbSNP:

rs121913506

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

19865100

2010

dbSNP:

rs121913509

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

19865100

2010

dbSNP:

rs121913506

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

15173254

2004

dbSNP:

rs121913509

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

15173254

2004

dbSNP:

rs121913506

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

9990072

1999

dbSNP:

rs121913509

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

9990072

1999

dbSNP:

rs1057519709

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121913517

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

CausalMutation

CLINVAR

dbSNP:

rs753212327

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913682

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.030

GeneticVariation

BEFREE

Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease.

30488427

2018

dbSNP:

rs121913682

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.030

GeneticVariation

BEFREE

In summary, we confirmed a high incidence of two distinct c-kit mutations, Asp8</span>16Val and Asp816Phe, in patients with childhood-onset cuta</span>neous mastocytosis.

15858149

2005

dbSNP:

rs121913682

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.030

GeneticVariation

BEFREE

Asp-816-->Val with a subset of sporadic persistent (systemic) mastocytosis (mostly adults), and Gly-839-->Lys with (a subset of) typical pediatric (mostly cutaneous) mastocytosis.

10529583

1999

dbSNP:

rs993022333

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

0.010

GeneticVariation

BEFREE

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

21689725

2011