DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Variant: rs1555801973 ×

Source: CURATED ×

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:

rs1555801973

MKKS

0.700

CausalMutation

CLINVAR

Genetics of human Bardet-Biedl syndrome, an updates.

26762677

2016

dbSNP:

rs1555801973

MKKS

0.700

CausalMutation

CLINVAR

Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

24608809

2014

dbSNP:

rs1555801973

MKKS

0.700

CausalMutation

CLINVAR

McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.

22090721

2011

dbSNP:

rs1555801973

MKKS

0.700

CausalMutation

CLINVAR

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

10802661

2000

dbSNP:

rs1555801973

MKKS

0.700

CausalMutation

CLINVAR

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

10465109

1999