TaoMedAI/RareMedData huggingface dataset:
Gene: IL23R
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: IL23R
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: EXOC8
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Death in adolescence (HP:0011421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: EXOC8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Gene: CLDN19
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Macular coloboma (HP:0001116)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Macular coloboma (HP:0001116)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Nephropathy (HP:0000112)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Nystagmus (HP:0000639)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Hypermagnesiuria (HP:0012608)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Renal calcium wasting (HP:0012637)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Hematuria (HP:0000790)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Astigmatism (HP:0000483)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: CLDN19
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Myopia (HP:0000545)
Associated disease: Meier-Blumberg-Imahorn syndrome; Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome (ORPHA:2196)
Gene: CLDN19
Phenotype: Myopia (HP:0000545)
Associated disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Gene: GNAS-AS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Sporadic (HP:0003745)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Obesity (HP:0001513)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS-AS1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: SIK1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: SIK1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: SIK1
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)