FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 CausalMutation disease CLINVAR Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 18556664 2008
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease MGD Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Mutations in Factor-Induced-Gene 4 (FIG4) gene have been identified in Charcot-Marie-Tooth disease type 4J (CMT4J), Yunis-Varon syndrome and epilepsy with polymicrogyria. 26708557 2016
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease CLINVAR Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 Biomarker disease GENOMICS_ENGLAND In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. 23623387 2013
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4. 21705420 2011
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		1.000 GeneticVariation disease CLINVAR In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. 23623387 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GermlineCausalMutation disease ORPHANET Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 CausalMutation disease CLINVAR
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker disease BEFREE Here, we present the case of a female neonate with clinical features of YVS and normal FIG4 sequencing; exome sequencing identified biallelic rare coding variants in VAC14. 28635952 2017
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE Novel FIG4 mutations in Yunis-Varon syndrome. 24088667 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker disease CTD_human
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE The lipid phosphatase gene FIG4 is responsible for Yunis-Varón syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. 30740813 2019
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease UNIPROT Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker disease MGD Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). 25187576 2015
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome. 29688489 2018
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE Pathogenic variants in FIG4 have been previously reported to cause Yunis-Varon syndrome. 31591492 2019
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE Our findings demonstrate that homozygosity or compound heterozygosity for null mutations of FIG4 is responsible for YVS, the most severe known human phenotype caused by defective phosphoinositide metabolism. 23623387 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 GeneticVariation disease BEFREE Mutations in Factor-Induced-Gene 4 (FIG4) gene have been identified in Charcot-Marie-Tooth disease type 4J (CMT4J), Yunis-Varon syndrome and epilepsy with polymicrogyria. 26708557 2016
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker disease GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 CausalMutation disease CLINVAR FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. 28051077 2017