CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.920 CausalMutation disease CLINVAR The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 11727201 2002
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.920 GeneticVariation disease CLINVAR The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 11727201 2002
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.920 GeneticVariation disease UNIPROT The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 11727201 2002
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.920 Biomarker disease MGD Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. 9600738 1998
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.920 Biomarker disease GENOMICS_ENGLAND