TaoMedAI/RareMedData huggingface dataset:
Gene: VCP
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
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: VCP
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Steppage gait (HP:0003376)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
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: VCP
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Babinski sign (HP:0003487)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
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: VCP
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
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: VCP
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Back pain (HP:0003418)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Back pain (HP:0003418)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
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: VCP
Phenotype: Apraxia (HP:0002186)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
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: VCP
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: VCP
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Alexia (HP:0010523)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Paresthesia (HP:0003401)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Middle age onset (HP:0003596)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Tetraparesis (HP:0002273)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
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: VCP
Phenotype: Tetraparesis (HP:0002273)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
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: VCP
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
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: VCP
Phenotype: Facial palsy (HP:0010628)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
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: VCP
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: VCP
Phenotype: Fasciculations (HP:0002380)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Fasciculations (HP:0002380)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Fasciculations (HP:0002380)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Fasciculations (HP:0002380)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Aphasia (HP:0002381)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Aphasia (HP:0002381)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Aphasia (HP:0002381)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Aphasia (HP:0002381)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
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: VCP
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Scapular winging (HP:0003691)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Scapular winging (HP:0003691)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Frequent falls (HP:0002359)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Loss of speech (HP:0002371)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
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: VCP
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
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: VCP
Phenotype: Mutism (HP:0002300)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: VCP
Phenotype: Mutism (HP:0002300)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Mutism (HP:0002300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
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: VCP
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: VCP
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
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: VCP
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Abulia (HP:0012671)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Y; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; CMT2 due to VCP mutation; CMT2Y (ORPHA:435387)
Gene: VCP
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)