TaoMedAI/RareMedData huggingface dataset:
Gene: TUBGCP4
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Visual impairment (HP:0000505)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCINE N-METHYLTRANSFERASE DEFICIENCY (OMIM:606664)
Gene: GNMT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCINE N-METHYLTRANSFERASE DEFICIENCY (OMIM:606664)
Gene: GNMT
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: GLYCINE N-METHYLTRANSFERASE DEFICIENCY (OMIM:606664)
Gene: GNMT
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCINE N-METHYLTRANSFERASE DEFICIENCY (OMIM:606664)
Gene: COQ2
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Autonomic erectile dysfunction (HP:0008652)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Autonomic erectile dysfunction (HP:0008652)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Sporadic (HP:0003745)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Motor delay (HP:0001270)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Seizure (HP:0001250)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Ataxia (HP:0001251)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Ataxia (HP:0001251)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Dysarthria (HP:0001260)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Dysarthria (HP:0001260)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Axial dystonia (HP:0002530)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Axial dystonia (HP:0002530)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Proteinuria (HP:0000093)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Tremor (HP:0001337)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Tremor (HP:0001337)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Myoclonus (HP:0001336)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Constipation (HP:0002019)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Constipation (HP:0002019)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Dysphagia (HP:0002015)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Rigidity (HP:0002063)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Rigidity (HP:0002063)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Rigidity (HP:0002063)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Camptocormia (HP:0100595)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Camptocormia (HP:0100595)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Right hemiplegia (HP:0040293)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Babinski sign (HP:0003487)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Scanning speech (HP:0002168)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Postural instability (HP:0002172)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Postural instability (HP:0002172)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Postural instability (HP:0002172)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Postural instability (HP:0002172)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Adult onset (HP:0003581)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Progressive (HP:0003676)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Resting tremor (HP:0002322)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Resting tremor (HP:0002322)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Recurrent myoglobinuria (HP:0003652)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Nystagmus (HP:0000639)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Anemia (HP:0001903)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Orthostatic syncope (HP:0012670)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Orthostatic syncope (HP:0012670)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Impotence (HP:0000802)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Anxiety (HP:0000739)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Anxiety (HP:0000739)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Apathy (HP:0000741)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Apathy (HP:0000741)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Depression (HP:0000716)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Depression (HP:0000716)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Stridor (HP:0010307)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Stridor (HP:0010307)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Anhidrosis (HP:0000970)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Female anorgasmia (HP:0030015)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Female anorgasmia (HP:0030015)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Fatigue (HP:0012378)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Autonomic bladder dysfunction (HP:0005341)
Associated disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; Sporadic OPCA type 1; MSA-c; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Gene: COQ2
Phenotype: Autonomic bladder dysfunction (HP:0005341)
Associated disease: Multiple system atrophy, parkinsonian type; MSA-p; MSA, parkinsonian type (ORPHA:98933)
Gene: COQ2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Ptosis (HP:0000508)
Associated disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Gene: COQ2
Phenotype: Visual loss (HP:0000572)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Gene: COQ2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)