TaoMedAI/RareMedData huggingface dataset:
Gene: VCP
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
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 long bone morphology (HP:0011314)
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: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Short stature (HP:0004322)
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: Deficit in grammar (HP:0006977)
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: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Abolished vibration sense (HP:0006944)
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 tactile sensation (HP:0006937)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Brain neoplasm (HP:0030692)
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: Paget disease of bone (HP:0034159)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Weakness of muscles of respiration (HP:0004347)
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: Lack of insight (HP:0000757)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Personality changes (HP:0000751)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Personality changes (HP:0000751)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
Phenotype: Decreased nerve conduction velocity (HP:0000762)
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: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
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: VCP
Phenotype: Irritability (HP:0000737)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Anxiety (HP:0000739)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
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: VCP
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: VCP
Phenotype: Disinhibition (HP:0000734)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
Phenotype: Depression (HP:0000716)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
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: VCP
Phenotype: Depression (HP:0000716)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Emotional lability (HP:0000712)
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: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Dementia (HP:0000726)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Dementia (HP:0000726)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
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: VCP
Phenotype: Atypical behavior (HP:0000708)
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: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Ankle clonus (HP:0011448)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Hand muscle atrophy (HP:0009130)
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: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Myopathy (HP:0003198)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Abnormality of the vertebral column (HP:0000925)
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: 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: VCP
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
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 circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Calvarial hyperostosis (HP:0004490)
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 circulating creatine kinase concentration (HP:0003236)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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 spinal bone density (HP:0004563)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Hip pain (HP:0030838)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Hip pain (HP:0030838)
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: 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: VCP
Phenotype: Arthralgia (HP:0002829)
Associated disease: Spastic paraplegia-Paget disease of bone syndrome (ORPHA:329475)
Gene: VCP
Phenotype: Limited knee flexion (HP:0006389)
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: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 (OMIM:613954)
Gene: VCP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
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: Tip-toe gait (HP:0030051)
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: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Lumbar hyperlordosis (HP:0002938)
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 sensory impairment (HP:0002936)
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: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Congestive heart failure (HP:0001635)
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: Cardiomyopathy (HP:0001638)
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: Cardiomyopathy (HP:0001638)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
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: VCP
Phenotype: Brain atrophy (HP:0012444)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Brain atrophy (HP:0012444)
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: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
Phenotype: Hammertoe (HP:0001765)
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: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Late young adult onset (HP:0025710)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Gene: VCP
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
Gene: VCP
Phenotype: Pes cavus (HP:0001761)
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: Cataract (HP:0000518)
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: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VCP
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: VCP
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Adult-onset distal myopathy due to VCP mutation (ORPHA:329478)
Gene: VCP
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
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: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: VCP
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: VCP
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: VCP
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VDR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Motor delay (HP:0001270)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Hypotonia (HP:0001252)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)