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 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 CausalMutation disease CLINVAR
CUI: C3715049
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 13
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.700 Biomarker disease CTD_human
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 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 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: 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: 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: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.030 GeneticVariation disease BEFREE We subsequently sequenced CTSF in 22 unrelated individuals with suspected recessive Kufs disease, and identified an additional patient with compound heterozygous mutations. 23297359 2013
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.030 GeneticVariation disease BEFREE Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. 29120254 2018
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.030 Biomarker disease BEFREE Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease. 25576872 2015
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.030 Biomarker disease BEFREE CTSF encodes cathepsin F, a lysosomal cysteine protease, dysfunction of which is a highly plausible candidate mechanism for a storage disorder like ceroid lipofuscinosis. 23297359 2013
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.030 GeneticVariation disease BEFREE Mutations in the gene encoding cathepsin-F (CTSF) have recently been associated with type-B-Kufs-disease, an adult form of neuronal ceroid-lipofuscinosis. 25576872 2015
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.030 GeneticVariation disease BEFREE Kufs disease type B (also termed CLN13), an adult-onset form of neuronal ceroid lipofuscinosis (NCL), is genetically heterogeneous and challenging to diagnose. 29120254 2018
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.010 Biomarker disease BEFREE Quantitative proteomics enabled the identification of >5,500 proteins in the cardiomyocyte proteome and secretome, and revealed accumulation of the lysosomal protein LIMP-2 and secretion of cathepsin F and HSPA2/HSP70-2 in FD. 31378672 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 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: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 AlteredExpression disease BEFREE Expression of cathepsin F and hepatocyte growth factor (HGF) genes was increased in ex vivo and organ-cultured DR corneas compared with normal corneas. 16186340 2005
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE Six GC cell lines and 44 paired adjacent noncancerous and GC tissue samples were used to assess CTSF expression by quantitative polymerase chain reaction (qPCR). 28474574 2018