DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Absent reflex ×

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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:	2548
Gene Symbol:	GAA

GAA

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

26160551

2015

Entrez Id:	6606
Gene Symbol:	SMN1

SMN1

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

24498607

2013

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

24498607

2013

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR

Entrez Id:	6606
Gene Symbol:	SMN1

SMN1

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	3508
Gene Symbol:	IGHMBP2

IGHMBP2

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

GeneticVariation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C0234146
Disease:	Absent reflex

Absent reflex

0.100

CausalMutation

CLINVAR