Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199469464
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Stippled calcification in an infant with a recurrent SRCAP gene mutation. 26788936 2016
dbSNP: rs199469464
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Whole exome sequencing to identify genetic causes of short stature. 24970356 2014
dbSNP: rs199469464
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 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
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. 23763483 2014
dbSNP: rs199469464
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. 22965468 2013
dbSNP: rs199469464
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 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
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Exome sequencing to identify de novo mutations in sporadic ALS trios. 23708140 2013
dbSNP: rs199469464
rs199469464
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. 22265015 2012