DisGeNET - a database of gene-disease associations

rs1555601787, MKS1;LPO;LOC105371841

N. diseases: 3

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

JOUBERT SYNDROME 28

CUI:	C4310705
Disease:	JOUBERT SYNDROME 28

0.700

GeneticVariation

CLINVAR

Meckel syndrome type 1

CUI:	C3714506
Disease:	Meckel syndrome type 1

0.700

GeneticVariation

CLINVAR

BARDET-BIEDL SYNDROME 13

CUI:	C2673873
Disease:	BARDET-BIEDL SYNDROME 13

0.700

GeneticVariation

CLINVAR