TaoMedAI/RareMedData huggingface dataset:
Gene: ATP1A3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP1B1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ATP1B1
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ATP1B1
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ATP1B1
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: FXYD2
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: FXYD2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOMAGNESEMIA 2, RENAL (OMIM:154020)
Gene: ATP2A1
Phenotype: Myotonia (HP:0002486)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Myokymia (HP:0002411)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Motor delay (HP:0001270)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Myalgia (HP:0003326)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Fasciculations (HP:0002380)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Abnormal reflex (HP:0031826)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Difficulty running (HP:0009046)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A1
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: BRODY MYOPATHY (OMIM:601003)
Gene: ATP2A2
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Seizure (HP:0001250)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Seizure (HP:0001250)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Enlargement of parotid gland (HP:0011801)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Subungual hyperkeratotic fragments (HP:0008410)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Subungual hyperkeratotic fragments (HP:0008410)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Acantholysis (HP:0100792)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Acantholysis (HP:0100792)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Acantholysis (HP:0100792)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Palmar pits (HP:0010610)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Palmar pits (HP:0010610)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Plantar pits (HP:0010612)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Plantar pits (HP:0010612)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Parakeratosis (HP:0001036)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Acrokeratosis (HP:0200016)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Acrokeratosis (HP:0200016)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Acrokeratosis (HP:0200016)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Skin plaque (HP:0200035)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Verrucae (HP:0200043)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Longitudinal erythronychia (HP:6001074)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Longitudinal erythronychia (HP:6001074)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Macule (HP:0012733)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Depression (HP:0000716)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Pruritus (HP:0000989)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2A2
Phenotype: Pruritus (HP:0000989)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Skin-colored papule (HP:0025512)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Anal mucosal leukoplakia (HP:0005212)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Blepharitis (HP:0000498)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Anonychia (HP:0001798)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Verrucous papule (HP:0012500)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Leukonychia (HP:0001820)
Associated disease: Acrokeratosis verruciformis of Hopf; AKV of Hopf (ORPHA:79151)
Gene: ATP2A2
Phenotype: Fragile nails (HP:0001808)
Associated disease: Darier disease; Darier-White disease; Keratosis follicularis (ORPHA:218)
Gene: ATP2A2
Phenotype: Ridged nail (HP:0001807)
Associated disease: ACROKERATOSIS VERRUCIFORMIS (OMIM:101900)
Gene: ATP2A2
Phenotype: Ridged nail (HP:0001807)
Associated disease: DARIER-WHITE DISEASE (OMIM:124200)
Gene: ATP2B1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Sparse hair (HP:0008070)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Gene: ATP2B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B2
Phenotype: Middle age onset (HP:0003596)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B2
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Gene: ATP2B3
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Intention tremor (HP:0002080)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Babinski sign (HP:0003487)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Difficulty standing (HP:0003698)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Frequent falls (HP:0002359)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Action tremor (HP:0002345)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Action tremor (HP:0002345)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Nonprogressive (HP:0003680)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Clumsiness (HP:0002312)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP2B3
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Gene: ATP2B3
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Gene: ATP5F1A
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Hyperglutamatemia (HP:0500149)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)