TaoMedAI/RareMedData huggingface dataset:
Gene: HINT1
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: EMG: myokymic discharges (HP:0100288)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Neuromyotonia (HP:0034351)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HIVEP2
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Attached earlobe (HP:0009907)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Microtia (HP:0008551)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Poor head control (HP:0002421)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Impulsivity (HP:0100710)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hirsutism (HP:0001007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Increased overbite (HP:0011094)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HIVEP2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Gene: HK1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Reduced erythrocyte hexokinase activity (HP:6000559)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Areflexia (HP:0001284)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Motor conduction block (HP:0012078)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Paralysis (HP:0003470)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Axonal regeneration (HP:0003450)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Cholecystitis (HP:0001082)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Unilateral facial palsy (HP:0012799)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HK1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Gene: HK1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Gene: HK1
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Gene: HK1
Phenotype: Jaundice (HP:0000952)
Associated disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Gene: HK1
Phenotype: Pes valgus (HP:0008081)
Associated disease: HMSNR; CMT4G; Hereditary motor and sensory neuropathy, Russe Type; Charcot-Marie-Tooth disease type 4G (ORPHA:99953)
Gene: HK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)