DisGeNET - a database of gene-disease associations

rs587778872, CRYGC;LOC100507443

N. diseases: 6

Source: ALL

Results per page

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Congenital cataract

CUI:	C0009691
Disease:	Congenital cataract

104

0.807

0.200

2

208128231

missense variant

G/A;C

snv

8.0E-06

0.700

1.000

2016

2016

CATARACT 2, MULTIPLE TYPES

CUI:	C4721890
Disease:	CATARACT 2, MULTIPLE TYPES

6

0.807

0.200

2

208128231

missense variant

G/A;C

snv

8.0E-06

0.700

Microphthalmos

CUI:	C0026010
Disease:	Microphthalmos

40

0.807

0.200

2

208128231

missense variant

G/A;C

snv

8.0E-06

0.700

Bilateral cataracts (disorder)

CUI:	C0521707
Disease:	Bilateral cataracts (disorder)

37

0.807

0.200

2

208128231

missense variant

G/A;C

snv

8.0E-06

0.010

1.000

2017

2017

Cataract

CUI:	C0086543
Disease:	Cataract

124

0.807

0.200

2

208128231

missense variant

G/A;C

snv

8.0E-06

0.010

1.000

2017

2017

Microcornea

CUI:	C0266544
Disease:	Microcornea

10

0.807

0.200

2

208128231

missense variant

G/A;C

snv

8.0E-06

0.010

1.000

2017

2017