Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 26834045

2016
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. 26048982

2015
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. 24726472

2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509

2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Structural and functional analysis of the DEAF-1 and BS69 MYND domains. 23372760

2013
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. 22442688

2012
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A de novo paradigm for mental retardation. 21076407

2010