DisGeNET - a database of gene-disease associations

Abnormal retinal morphology, C0035300

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1010184002

rs1010184002

PEX6

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs28940877

rs28940877

TYR ; LOC107984363

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs368869806

rs368869806

PTCH1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs373909351

rs373909351

IQCB1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs376823382

rs376823382

TYR ; LOC107984363

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs398123538

rs398123538

IQCB1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs61753219

rs61753219

PEX6

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs62654397

rs62654397

ABCA4

A

0.700

GeneticVariation

CLINVAR