CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Disease: Abnormality of brain morphology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 23735787 2013
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR