Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. 23763483 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Whole exome sequencing to identify genetic causes of short stature. 24970356 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. 23763483 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Whole exome sequencing to identify genetic causes of short stature. 24970356 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. 25433523 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 23621943 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Exome sequencing to identify de novo mutations in sporadic ALS trios. 23708140 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. 22965468 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 23621943 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Exome sequencing to identify de novo mutations in sporadic ALS trios. 23708140 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. 22965468 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. 22265015 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. 22265015 2012
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 CausalMutation disease CLINVAR
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0018965
Disease: Hematuria
Hematuria 		0.100 CausalMutation phenotype CLINVAR
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 CausalMutation disease CLINVAR
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO