TaoMedAI/RareMedData huggingface dataset:
Gene: UBTF
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Decreased body weight (HP:0004325)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Kyphosis (HP:0002808)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Microcephaly (HP:0000252)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UCHL1
Phenotype: Myotonia (HP:0002486)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Myokymia (HP:0002411)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Head titubation (HP:0002599)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Gene: UCHL1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Gene: UCHL1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Gene: UCHL1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Gene: UCHL1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Gene: UCHL1
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Gene: UCHL1
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Adult onset (HP:0003581)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Opto-chiasmatic atrophy (HP:0034008)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Gene: UCHL1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Visual loss (HP:0000572)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCHL1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: UCHL1
Phenotype: Myopia (HP:0000545)
Associated disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Gene: UCP2
Phenotype: Syncope (HP:0001279)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Lethargy (HP:0001254)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Excessive insulin response to glucagon test (HP:0031084)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Reactive hypoglycemia (HP:0012051)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Diffuse pancreatic islet hyperplasia (HP:0031224)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Decreased circulating free fatty acid level (HP:0040299)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Drowsiness (HP:0002329)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Palpitations (HP:0001962)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Agitation (HP:0000713)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Pallor (HP:0000980)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Tachycardia (HP:0001649)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Hyperinsulinemic hypoglycemia due to UCP2 deficiency; Hyperinsulinism due to UCP2 deficiency (ORPHA:276556)
Gene: UCP3
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: UCP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: UCP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: UCP3
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: UCP3
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: UCP3
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: UFD1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Meningocele (HP:0002435)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Spina bifida (HP:0002414)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Tetany (HP:0001281)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: UFD1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)