TaoMedAI/RareMedData huggingface dataset:
Gene: MAPT
Phenotype: Tachylalia (HP:0031937)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Lack of insight (HP:0000757)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Personality changes (HP:0000751)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Personality changes (HP:0000751)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Personality changes (HP:0000751)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Personality changes (HP:0000751)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Personality changes (HP:0000751)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Irritability (HP:0000737)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Irritability (HP:0000737)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Irritability (HP:0000737)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Irritability (HP:0000737)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Anxiety (HP:0000739)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Anxiety (HP:0000739)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Disinhibition (HP:0000734)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Disinhibition (HP:0000734)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Abnormal diminished volition (HP:0000745)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Abnormal diminished volition (HP:0000745)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Apathy (HP:0000741)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Apathy (HP:0000741)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Apathy (HP:0000741)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Apathy (HP:0000741)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Frontal release signs (HP:0000743)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Frontal release signs (HP:0000743)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Depression (HP:0000716)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Depression (HP:0000716)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Restlessness (HP:0000711)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Hyperorality (HP:0000710)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Hyperorality (HP:0000710)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Dementia (HP:0000726)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Dementia (HP:0000726)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Dementia (HP:0000726)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Young adult onset (HP:0011462)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Senile plaques (HP:0100256)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Senile plaques (HP:0100256)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Speech apraxia (HP:0011098)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Slowed horizontal saccades (HP:0007885)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Weak voice (HP:0001621)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Fixed facial expression (HP:0005329)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Emotional dearth (HP:0030213)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Limb apraxia (HP:0030217)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Limb apraxia (HP:0030217)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Perseverative thought (HP:0030223)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Visual agnosia (HP:0030222)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Late young adult onset (HP:0025710)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MARK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARK3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARK3
Phenotype: Congenital onset (HP:0003577)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARK3
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARK3
Phenotype: Flat cornea (HP:0007720)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARK3
Phenotype: Ptosis (HP:0000508)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARK3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI (OMIM:618283)
Gene: MARS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Clubbing (HP:0001217)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Cholestasis (HP:0001396)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Vomiting (HP:0002013)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Dyspnea (HP:0002094)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Late onset (HP:0003584)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Progressive (HP:0003676)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Anemia (HP:0001903)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)