CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 Biomarker disease GENOMICS_ENGLAND Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease. 25274848 2014
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 GeneticVariation disease UNIPROT Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 23297359 2013
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 Biomarker disease GENOMICS_ENGLAND De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 GermlineCausalMutation disease ORPHANET Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 23297359 2013
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 Biomarker disease GENOMICS_ENGLAND Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. 16508006 2006
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 CausalMutation disease CLINVAR
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 Biomarker disease CTD_human