DisGeNET - a database of gene-disease associations

Hyperactive deep tendon reflexes, C1846176

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

CausalMutation

phenotype

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

2016

Entrez Id:	128989
Gene Symbol:	TANGO2

TANGO2

0.100

Biomarker

phenotype

HPO

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10273
Gene Symbol:	STUB1

STUB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1950
Gene Symbol:	EGF

EGF

0.100

Biomarker

phenotype

HPO

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.100

Biomarker

phenotype

HPO

Entrez Id:	54805
Gene Symbol:	CNNM2

CNNM2

0.100

Biomarker

phenotype

HPO

Entrez Id:	112476
Gene Symbol:	PRRT2

PRRT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2581
Gene Symbol:	GALC

GALC

0.100

Biomarker

phenotype

HPO

Entrez Id:	131669
Gene Symbol:	UROC1

UROC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2697
Gene Symbol:	GJA1

GJA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	83636
Gene Symbol:	C19orf12

C19orf12

0.100

Biomarker

phenotype

HPO

Entrez Id:	56006
Gene Symbol:	SMG9

SMG9

0.100

Biomarker

phenotype

HPO

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3748
Gene Symbol:	KCNC3

KCNC3

0.100

Biomarker

phenotype

HPO

Entrez Id:	146227
Gene Symbol:	BEAN1

BEAN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

0.100

Biomarker

phenotype

HPO

Entrez Id:	4081
Gene Symbol:	MAB21L1

MAB21L1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

0.100

Biomarker

phenotype

HPO

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.100

Biomarker

phenotype

HPO

Entrez Id:	5621
Gene Symbol:	PRNP

PRNP

0.100

Biomarker

phenotype

HPO