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: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 Biomarker group BEFREE We also discuss the implications of FIG4/PI(3,5)P(2) signaling in understanding other lysosomal storage diseases, neuropathies, and acquired demyelinating diseases. 23165282 2013
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 Biomarker group BEFREE The families described here the expanded clinical spectrum of FIG4 deficiency to include leukoencephalopathy. 30740813 2019
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with seizures and psychiatric manifestations, in addition to the previously described Charcot-Marie-Tooth disease type 4J and Yunis-Varón syndrome. 24598713 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE Interestingly, FIG4 mutations were previously reported to be responsible for other neurodegenerative diseases such as autosomal recessive Charcot-Marie-Tooth disease type 4J and autosomal dominant amyotrophic lateral sclerosis/primary lateral sclerosis. 24088667 2013
CUI: C0241391
Disease: Thumb absent
Thumb absent 		0.400 Biomarker phenotype GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C0241391
Disease: Thumb absent
Thumb absent 		0.400 Biomarker phenotype HPO
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		0.300 Biomarker phenotype GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 25617005 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Congenital heart malformation in Yunis-Varón syndrome. 8411078 1993
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Congenital heart malformation in Yunis-Varón syndrome. 8411078 1993
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713 2014