DisGeNET - a database of gene-disease associations

Source: MGD

Disease: RETINITIS PIGMENTOSA 1 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	6101
Gene Symbol:	RP1

RP1

RP1 axonemal microtubule associated

0.663

0.462

4.4E-13

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.900

None

1.000

0

1999

2014

Entrez Id:	10283
Gene Symbol:	CWC27

CWC27

CWC27 spliceosome associated cyclophilin

0.722

0.346

4.6E-07

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

phosphodiesterase 6B

0.626

0.346

2.6E-27

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	5148
Gene Symbol:	PDE6G

PDE6G

phosphodiesterase 6G

0.695

0.308

1.3E-02

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	5145
Gene Symbol:	PDE6A

PDE6A

phosphodiesterase 6A

0.691

0.269

6.6E-25

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	286204
Gene Symbol:	CRB2

CRB2

crumbs cell polarity complex component 2

0.678

0.269

1.5E-14

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	285331
Gene Symbol:	CCDC66

CCDC66

coiled-coil domain containing 66

0.743

0.154

5.6E-36

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

ATP/GTP binding protein 1

0.650

0.538

0.42

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	157657
Gene Symbol:	C8orf37

C8orf37

chromosome 8 open reading frame 37

0.628

0.538

2.4E-05

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	11190
Gene Symbol:	CEP250

CEP250

centrosomal protein 250

0.792

0.192

9.4E-33

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0

Entrez Id:	6533
Gene Symbol:	SLC6A6

SLC6A6

solute carrier family 6 member 6

0.682

0.538

0.99

CUI:	C0220701
Disease:	RETINITIS PIGMENTOSA 1

RETINITIS PIGMENTOSA 1

disease

0.200

None

0