TaoMedAI/RareMedData huggingface dataset:
Gene: HNRNPA1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Clumsiness (HP:0002312)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Amyotrophy of ankle musculature (HP:0009031)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Myopathy (HP:0003198)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Muscle fiber inclusion bodies (HP:0100299)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Muscle fiber inclusion bodies (HP:0100299)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Gene: HNRNPA1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Motor delay (HP:0001270)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Asthenia (HP:0025406)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Dysphagia (HP:0002015)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Ankle contracture (HP:0034677)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
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: HNRNPA2B1
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: HNRNPA2B1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)