CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
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
CUI: C0497327
Disease: Dementia
Dementia 		0.110 Biomarker disease BEFREE Although CTSF mutations account for a minority of cases of type B Kufs, CTSF screening should be considered in cases with early-onset dementia and may avoid the need for invasive biopsies. 23297359 2013
CUI: C0497327
Disease: Dementia
Dementia 		0.110 Biomarker disease HPO
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. 19416921 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASDB Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. 19416921 2009
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		0.100 Biomarker phenotype HPO
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		0.100 Biomarker phenotype HPO