DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Dysautonomia ×

The Variant filter does not apply in GDA tabs

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7276
Gene Symbol:	TTR

TTR

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.200

CausalMutation

CLINVAR

Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.

2018

Entrez Id:	1376
Gene Symbol:	CPT2

CPT2

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

CausalMutation

CLINVAR

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

CausalMutation

CLINVAR

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

CausalMutation

CLINVAR

Entrez Id:	10588
Gene Symbol:	MTHFS

MTHFS

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

GeneticVariation

CLINVAR

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

CausalMutation

CLINVAR

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

CausalMutation

CLINVAR

Entrez Id:	54870
Gene Symbol:	QRICH1

QRICH1

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

CausalMutation

CLINVAR

Entrez Id:	100528021
Gene Symbol:	ST20-MTHFS

ST20-MTHFS

CUI:	C0013363
Disease:	Dysautonomia

Dysautonomia

0.100

GeneticVariation

CLINVAR