TaoMedAI/RareMedData huggingface dataset:
Gene: KCNJ10
Phenotype: Polydipsia (HP:0001959)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Polydipsia (HP:0001959)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: KCNJ10
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Short stature (HP:0004322)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Enuresis (HP:0000805)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Enuresis (HP:0000805)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Goiter (HP:0000853)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Goiter (HP:0000853)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: KCNJ10
Phenotype: Goiter (HP:0000853)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Hypertension (HP:0000822)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Salt craving (HP:0030083)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Salt craving (HP:0030083)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Hypokalemia (HP:0002900)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: KCNJ10
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: KCNJ10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: KCNJ10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (OMIM:612780)
Gene: KCNJ10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: KCNJ10
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: KCNJ10
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; SeSAME syndrome; EAST syndrome; Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome (ORPHA:199343)
Gene: KCNJ11
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: KCNJ11
Phenotype: Thickened ears (HP:0009894)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Syncope (HP:0001279)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Seizure (HP:0001250)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Seizure (HP:0001250)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Hypotonia (HP:0001252)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Polyphagia (HP:0002591)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Coma (HP:0001259)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Excessive insulin response to glucagon test (HP:0031084)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Abnormal response to glucagon stimulation test (HP:0031080)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: KCNJ11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Macroglossia (HP:0000158)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Floppy infant (HP:0008947)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Focal pancreatic islet hyperplasia (HP:0031223)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Diffuse pancreatic islet hyperplasia (HP:0031224)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Diffuse pancreatic islet hyperplasia (HP:0031224)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Vomiting (HP:0002013)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: KCNJ11
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Multiple pancreatic beta-cell adenomas (HP:0008194)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Decreased circulating free fatty acid level (HP:0040299)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Apnea (HP:0002104)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Apraxia (HP:0002186)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Infantile onset (HP:0003593)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: KCNJ11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Drowsiness (HP:0002329)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)