TaoMedAI/RareMedData huggingface dataset:
Gene: HNF4A
Phenotype: Abnormal circulating fatty-acid concentration (HP:0004359)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Agitation (HP:0000713)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF4A
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Large for gestational age (HP:0001520)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Fatigue (HP:0012378)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Tachycardia (HP:0001649)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNMT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HNMT
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HNMT
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HNMT
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HNMT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Gene: HNMT
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: HNRNPA1
Phenotype: Split hand (HP:0001171)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Split hand (HP:0001171)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Gene: HNRNPA1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Gene: HNRNPA1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Steppage gait (HP:0003376)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Distal myopathy type 3; MPD3; Finnish upper limb-onset distal myopathy (ORPHA:399086)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Gene: HNRNPA1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Gene: HNRNPA1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Gene: HNRNPA1
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: HNRNPA1
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: HNRNPA1
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: HNRNPA1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: HNRNPA1
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: HNRNPA1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYOPATHY, DISTAL, 3 (OMIM:610099)