CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143889283
rs143889283
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 GeneticVariation UNIPROT Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 23297359 2013
dbSNP: rs397514731
rs397514731
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 GeneticVariation UNIPROT Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 23297359 2013
dbSNP: rs397514732
rs397514732
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 GeneticVariation UNIPROT Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 23297359 2013
dbSNP: rs397514733
rs397514733
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		0.800 GeneticVariation UNIPROT Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 23297359 2013
dbSNP: rs2242663
rs2242663
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C0005586
Disease:
Bipolar Disorder 		T 0.800 GeneticVariation GWASDB Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. 19416921 2009
dbSNP: rs2242663
rs2242663
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C0005586
Disease:
Bipolar Disorder 		T 0.800 GeneticVariation GWASCAT Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. 19416921 2009
dbSNP: rs143889283
rs143889283
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514731
rs397514731
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514732
rs397514732
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397514733
rs397514733
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1791679
rs1791679
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4630309
rs4630309
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C0489786
Disease:
Height 		0.700 GeneticVariation GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011
dbSNP: rs1555058286
rs1555058286
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		G 0.700 CausalMutation CLINVAR
dbSNP: rs375562245
rs375562245
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs753084727
rs753084727
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045136
rs797045136
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C3715049
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 13 		G 0.700 CausalMutation CLINVAR
dbSNP: rs765758974
rs765758974
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.010 GeneticVariation 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