DisGeNET - a database of gene-disease associations

KCTD17, potassium channel tetramerization domain containing 17, 79734

N. diseases: 22; N. variants: 3

Disease: DYSTONIA 26, MYOCLONIC ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4225341
Disease:	DYSTONIA 26, MYOCLONIC

DYSTONIA 26, MYOCLONIC

0.600

GeneticVariation

disease

UNIPROT

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

25983243

2015

CUI:	C4225341
Disease:	DYSTONIA 26, MYOCLONIC

DYSTONIA 26, MYOCLONIC

0.600

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C4225341
Disease:	DYSTONIA 26, MYOCLONIC

DYSTONIA 26, MYOCLONIC

0.600

CausalMutation

disease

CLINVAR