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 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 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 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 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 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 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 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 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: 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: 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: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.080 GeneticVariation disease BEFREE Truncated SRCAP protein variants have been implicated in the mechanism of FHS, but the molecular bases underlying the disease must still be elucidated and investigating the molecular defects leading to the onset of FHS remains a challenge. 27208210 2016
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.080 GeneticVariation disease BEFREE Sequencing of the SRCAP gene demonstrated a de novo mutation matching one of the known FHS-associated mutations. 23165645 2012
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.080 GeneticVariation disease BEFREE 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: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.080 GeneticVariation disease BEFREE Recently, mutations in SRCAP encoding a coactivator for cAMP-response element binding protein (CREB)-binding protein have been identified in small number of patients with FHS. 24375913 2014
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.080 GeneticVariation disease BEFREE Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. 31200758 2019
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		0.080 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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 GeneticVariation group 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: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.010 GeneticVariation disease BEFREE We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. 29383823 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 GeneticVariation group BEFREE Epigenetic gene expression profiling identified a candidate gene signature (DNMT3A, MBD4, MLL2, MLL3, NSD1, and SRCAP), which significantly discriminated nonmalignant from prostate tumor tissue (P = 0.0063) in an independent cohort. 20841388 2010
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.010 GeneticVariation disease BEFREE However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. 22965468 2013
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		0.010 GeneticVariation disease BEFREE We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. 29383823 2018