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 		0.130 GeneticVariation group BEFREE One of such very rare disorders is autosomal recessive ID type 66 (OMIM #618221) caused by defects in C12orf4. 31334606 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group BEFREE The only functional information available on C12ORF4 (Chromosome 12 Open Reading Frame 4) is its involvement in mast cell degranulation and its being a genetic cause of autosomal intellectual disability. 31106069 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Our findings implicate C12orf4 as a causative gene for autosomal recessive ID. 27311568 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO