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: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		0.100 Biomarker phenotype HPO
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		0.100 Biomarker phenotype HPO
CUI: C0850715
Disease: Abnormality of blood and blood-forming tissues
Abnormality of blood and blood-forming tissues 		0.100 Biomarker disease HPO
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		0.100 Biomarker phenotype HPO
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		0.100 Biomarker phenotype HPO
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		0.100 Biomarker disease HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 AlteredExpression disease BEFREE This genotype-phenotype correlation demonstrates that absence of FIG4 activity leads to central nervous system dysfunction and extensive skeletal anomalies. 23623387 2013
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.010 Biomarker phenotype BEFREE Constitutive Fig4-/- mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality. 29688489 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0085631
Disease: Agitation
Agitation 		0.100 Biomarker phenotype HPO
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.010 GeneticVariation disease BEFREE The metabolism of PI(3,5)P2 is regulated by the PIKfyve, VAC14 and FIG4 complex, mutations in which are associated with hypopigmentation in mice. 30709920 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 GermlineCausalMutation disease ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 Biomarker disease BEFREE Our study provides evidence for FIG4 as an ALS risk gene in a central European cohort, adds new variants to the mutational spectrum, links ALS to CMT4J on a genetic level, and describes a distinctive ALS phenotype for FIG4 variant carriers. 28051077 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 GeneticVariation disease BEFREE Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases. 19118816 2009
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.010 GeneticVariation disease 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: 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
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 Biomarker disease CTD_human