DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinitis Pigmentosa ×

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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:

rs541717028

rs541717028

MERTK

0.925

0.080

2

112019497

stop gained

C/T

snv

8.0E-06

4.2E-05

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.700

1.000

2004

2004

dbSNP:

rs878853354

rs878853354

MERTK

1.000

0.080

2

112019513

missense variant

G/A

snv

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.700

1.000

2014

2014

dbSNP:

rs527236083

rs527236083

MERTK

1.000

0.080

2

111929283

frameshift variant

A/-

del

1.4E-05

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.700

dbSNP:

rs746238212

rs746238212

MERTK

1.000

0.080

2

112019512

stop gained

C/A;G;T

snv

4.0E-06; 4.0E-06; 4.0E-06

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.700