TaoMedAI/RareMedData huggingface dataset:
Gene: VCL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCP
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Upper motor neuron dysfunction (HP:0002493)
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: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Language impairment (HP:0002463)
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: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Distal muscle weakness (HP:0002460)
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: Distal muscle weakness (HP:0002460)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Distal muscle weakness (HP:0002460)
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: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Dyscalculia (HP:0002442)
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: Abnormal motor neuron morphology (HP:0002450)
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: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Astrocytosis (HP:0002446)
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 pain sensation (HP:0007328)
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: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Expressive aphasia (HP:0002427)
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: Quadriceps muscle weakness (HP:0003731)
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: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Proximal muscle weakness (HP:0003701)
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: Proximal muscle weakness (HP:0003701)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Proximal muscle weakness (HP:0003701)
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: Generalized amyotrophy (HP:0003700)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Generalized amyotrophy (HP:0003700)
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: Stroke (HP:0001297)
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: Cranial nerve compression (HP:0001293)
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: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Mental deterioration (HP:0001268)
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 disturbance (HP:0001288)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Intellectual disability (HP:0001249)
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: Hyporeflexia (HP:0001265)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Dysarthria (HP:0001260)
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: Dysarthria (HP:0001260)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Spasticity (HP:0001257)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
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: Lower limb muscle weakness (HP:0007340)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Waddling gait (HP:0002515)
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: Loss of ambulation (HP:0002505)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
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: Rimmed vacuoles (HP:0003805)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Rimmed vacuoles (HP:0003805)
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: Rimmed vacuoles (HP:0003805)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Hepatic steatosis (HP:0001397)
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: Abnormal calvaria morphology (HP:0002683)
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: Urinary incontinence (HP:0000020)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Ubiquitin-positive cerebral inclusion bodies (HP:0012083)
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: Dystonia (HP:0001332)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Increased susceptibility to fractures (HP:0002659)
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: Muscle weakness (HP:0001324)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Tremor (HP:0001337)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Bone pain (HP:0002653)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Reduced tendon reflexes (HP:0001315)
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 pelvic girdle bone morphology (HP:0002644)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Parkinsonism (HP:0001300)
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: Bowel incontinence (HP:0002607)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Osteolysis (HP:0002797)
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: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
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: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
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: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Pelvic girdle muscle atrophy (HP:0008988)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Necrotizing myopathy (HP:0008978)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Distal upper limb muscle weakness (HP:0008959)
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 upper limb muscle weakness (HP:0008959)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Pelvic girdle amyotrophy (HP:0008946)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Pathologic fracture (HP:0002756)
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: Abnormality of the musculature of the lower limbs (HP:0001437)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Myalgia (HP:0003326)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Dysphagia (HP:0002015)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Dysphagia (HP:0002015)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: VCP
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Hyperlordosis (HP:0003307)
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: Generalized muscle weakness (HP:0003324)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Dyspnea (HP:0002094)
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: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Muscle spasm (HP:0003394)
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: Muscle spasm (HP:0003394)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Spastic gait (HP:0002064)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)