Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Floating-Harbor syndrome (FHS) is a rare genetic disorder caused by heterozygous mutations in the Snf2-related CREBBP activator protein (<i>SRCAP</i>) gene. 31248274 2020
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Floating-Harbor syndrome (FHS) is a rare, heritable disorder caused by variants in the SRCAP gene. 31605816 2019
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE The developmental disorder Floating-Harbor syndrome (FHS) is caused by heterozygous truncating mutations in SRCAP, a gene encoding a chromatin remodeler mediating incorporation of histone variant H2A.Z. 31491386 2019
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. 31200758 2019
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. 27208210 2016
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Recently, truncating mutations in the SRCAP gene have been shown to cause Floating-Harbor syndrome (FHS, OMIM#136140), a rare disorder characterized by peculiar facial features, short stature with delayed osseous maturation and speech impairment. 25451714 2015
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. 25433523 2014
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE We show that SRCAP, which is mutated in Floating-Harbor syndrome, confers resistance to DNA damage-inducing agents and is recruited to DSBs. 25176633 2014
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. 24375913 2014
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 23621943 2013
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GermlineCausalMutation disease ORPHANET Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. 22965468 2013
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 GeneticVariation disease BEFREE Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. 22965468 2013
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS. 22265015 2012
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 Biomarker disease CTD_human
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human The mutational landscape of adenoid cystic carcinoma. 23685749 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. 31200758 2019
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.110 GeneticVariation group BEFREE This is the first report of a 16p11.2 deletion completely removing one copy of SRCAP, suggesting that haploinsufficiency of this gene could be associated to speech impairment, global developmental delay, behavioural problems and few subtle phenotypic features resembling FHS. 25451714 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.110 Biomarker group HPO
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Stippled calcification in an infant with a recurrent SRCAP gene mutation. 26788936 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Stippled calcification in an infant with a recurrent SRCAP gene mutation. 26788936 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. 25433523 2014