Disease: Atkin syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CLINGEN The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. 28576939 2017
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CLINGEN De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. 24680889 2014
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CLINGEN Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CLINGEN Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 18801879 2008
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CLINGEN A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 16470793 2006
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CLINGEN A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. 10471494 1999
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		0.600 Biomarker disease CTD_human