DisGeNET - a database of gene-disease associations

Reduced tendon reflexes, C1866934

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1114167423

rs1114167423

APTX

A

0.700

CausalMutation

CLINVAR

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

2017

dbSNP:

rs1057518946

rs1057518946

GJB1

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1294950721

rs1294950721

JAG1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1568019012

rs1568019012

LAMA1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs28934907

rs28934907

MECP2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs587782995

rs587782995

PURA

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727502818

rs727502818

KCNC1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs796052243

rs796052243

SPATA5

T

0.700

GeneticVariation

CLINVAR