TaoMedAI/RareMedData huggingface dataset:
Gene: SNRPN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Central apnea (HP:0002871)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Obesity (HP:0001513)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Weak cry (HP:0001612)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Strabismus (HP:0000486)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Strabismus (HP:0000486)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Short neck (HP:0000470)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Pes planus (HP:0001763)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Premature pubarche (HP:0012411)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Prominent nose (HP:0000448)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Flat occiput (HP:0005469)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Flat occiput (HP:0005469)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Proptosis (HP:0000520)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Exotropia (HP:0000577)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Myopia (HP:0000545)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Myopia (HP:0000545)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNTA1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 12 (OMIM:612955)
Gene: SNTA1
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 12 (OMIM:612955)
Gene: SNTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 12 (OMIM:612955)
Gene: SNTA1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 12 (OMIM:612955)
Gene: SNTA1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SNTA1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 12 (OMIM:612955)
Gene: SNTA1
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SNTA1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: LONG QT SYNDROME 12 (OMIM:612955)
Gene: SOD1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Myokymia (HP:0002411)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Gene: SOD1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: SOD1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: SOD1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)