ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 GeneticVariation group BEFREE A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group GENOMICS_ENGLAND A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group HPO