FBXO31, F-box protein 31, 79791

N. diseases: 66; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014864
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 		0.400 CausalMutation disease CLINVAR
CUI: C4014864
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 		0.400 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. 24623383 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE 14 of the deletions associated with ASD/ID overlap the coding regions of FBXO31 and MAP1LC3B. 23335808 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.100 Biomarker phenotype HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.100 Biomarker phenotype HPO