TaoMedAI/RareMedData huggingface dataset:
Gene: TBK1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Status epilepticus (HP:0002133)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Apraxia (HP:0002186)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Gliosis (HP:0002171)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Weakness due to upper motor neuron dysfunction (HP:0010549)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Middle age onset (HP:0003596)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 (OMIM:617900)
Gene: TBK1
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 (OMIM:617900)
Gene: TBK1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Adult onset (HP:0003581)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Paraparesis (HP:0002385)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Fasciculations (HP:0002380)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Progressive (HP:0003676)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 (OMIM:617900)
Gene: TBK1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Headache (HP:0002315)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Leukocytoclastic vasculitis (HP:0034786)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Mutism (HP:0002300)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Mutism (HP:0002300)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 (OMIM:617900)
Gene: TBK1
Phenotype: Neuronal loss in the cerebral cortex (HP:0007190)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Exanthem (HP:4000054)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Fever (HP:0001945)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Recurrent fever (HP:0001954)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Short stature (HP:0004322)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Personality changes (HP:0000751)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Disinhibition (HP:0000734)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Apathy (HP:0000741)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Depression (HP:0000716)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Villous atrophy (HP:0011473)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Gene: TBK1
Phenotype: Visceromegaly (HP:0003271)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Fatigue (HP:0012378)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 (OMIM:617900)
Gene: TBK1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Autoimmunity (HP:0002960)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Brain atrophy (HP:0012444)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Cerebral infarct (HP:0025722)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TBK1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Ptosis (HP:0000508)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: TBK1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TBK1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease:  (OMIM:620880)
Gene: TBK1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CTNNA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Gene: CTNNA3
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Gene: CTNNA3
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Gene: CTNNA3
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Gene: CTNNA3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Gene: CTNNA3
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Gene: ANKRD11
Phenotype: Syndactyly (HP:0001159)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Seizure (HP:0001250)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Seizure (HP:0001250)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Seizure (HP:0001250)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Epispadias (HP:0000039)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KBG SYNDROME (OMIM:148050)