DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 ×

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs267606856

rs267606856

GRXCR1

1.000

4

42962919

missense variant

C/T

snv

6.0E-05

2.1E-05

CUI:	C1414017
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 25

DEAFNESS, AUTOSOMAL RECESSIVE 25

0.800

1.000

2010

2010

dbSNP:

rs367784906

rs367784906

GRXCR1

1.000

4

42893379

missense variant

C/T

snv

1.7E-04

1.3E-04

CUI:	C1414017
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 25

DEAFNESS, AUTOSOMAL RECESSIVE 25

0.700

1.000

2010

2010

dbSNP:

rs370551174

rs370551174

GRXCR1

1.000

4

42893456

missense variant

G/A;C;T

snv

8.8E-04; 4.0E-06; 4.0E-06

CUI:	C1414017
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 25

DEAFNESS, AUTOSOMAL RECESSIVE 25

0.700

dbSNP:

rs770874273

rs770874273

GRXCR1

1.000

4

42962964

missense variant

T/G

snv

2.4E-05

CUI:	C1414017
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 25

DEAFNESS, AUTOSOMAL RECESSIVE 25

0.700