TaoMedAI/RareMedData huggingface dataset:
Gene: GCH1
Phenotype: Transient hyperphenylalaninemia (HP:0008297)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Transient hyperphenylalaninemia (HP:0008297)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Resting tremor (HP:0002322)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Incoordination (HP:0002311)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Irritability (HP:0000737)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Abnormal substantia nigra morphology (HP:0045007)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Torticollis (HP:0000473)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Pes cavus (HP:0001761)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCK
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Seizure (HP:0001250)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Coma (HP:0001259)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Coma (HP:0001259)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GCK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 (OMIM:125851)
Gene: GCK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GCK
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Apraxia (HP:0002186)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Fasting hyperinsulinemia (HP:0008283)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GCK
Phenotype: Hand tremor (HP:0002378)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 (OMIM:125851)
Gene: GCK
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 (OMIM:125851)
Gene: GCK
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GCK
Phenotype: Dehydration (HP:0001944)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Glycosuria (HP:0003076)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: GCK
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 (OMIM:602485)
Gene: GCK
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 1 (OMIM:606176)
Gene: GCK
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Fatigue (HP:0012378)
Associated disease: Glucokinase-related hyperinsulinemic hypoglycemia; Congenital glucokinase-related hyperinsulinism (ORPHA:79299)
Gene: GCK
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: GCK
Phenotype: Retinopathy (HP:0000488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCK
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: GCNT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 13 WITH ADULT i PHENOTYPE (OMIM:116700)
Gene: GCNT2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 13 WITH ADULT i PHENOTYPE (OMIM:116700)