TaoMedAI/RareMedData huggingface dataset:
Gene: LARGE1
Phenotype: Blindness (HP:0000618)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Peters anomaly (HP:0000659)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Short stature (HP:0004322)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Kinked brainstem (HP:0012793)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Myopathy (HP:0003198)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Pes valgus (HP:0008081)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Abnormality of the tongue muscle (HP:0040173)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Megalocornea (HP:0000485)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Coloboma (HP:0000589)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: LARGE1
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: VAPB
Phenotype: Myotonia (HP:0002486)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Areflexia (HP:0001284)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Areflexia (HP:0001284)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Waddling gait (HP:0002515)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Tremor (HP:0001337)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Tremor (HP:0001337)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)