DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs199469464 ×

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:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

26788936

2016

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Whole exome sequencing to identify genetic causes of short stature.

24970356

2014

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

25433523

2014

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

23763483

2014

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

22965468

2013

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

23621943

2013

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Exome sequencing to identify de novo mutations in sporadic ALS trios.

23708140

2013

dbSNP:

rs199469464

SRCAP

0.700

CausalMutation

CLINVAR

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

22265015

2012