TaoMedAI/RareMedData huggingface dataset:
Gene: CDKL5
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Broad proximal phalanges of the hand (HP:0009852)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Small hand (HP:0200055)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Small hand (HP:0200055)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Mutism (HP:0002300)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Synophrys (HP:0000664)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Agitation (HP:0000713)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: CDKL5
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Tactile hypersensitivity (HP:5200061)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Kyphosis (HP:0002808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Kyphosis (HP:0002808)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Hyperventilation (HP:0002883)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Hyperventilation (HP:0002883)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Growth delay (HP:0001510)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Growth delay (HP:0001510)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Broad forehead (HP:0000337)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Broad forehead (HP:0000337)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: High forehead (HP:0000348)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: CDKL5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: CDKL5
Phenotype: Short foot (HP:0001773)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Short foot (HP:0001773)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CDKL5
Phenotype: Hallux valgus (HP:0001822)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Exotropia (HP:0000577)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CDKL5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 (OMIM:300672)
Gene: CDKL5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: CDKL5
Phenotype: Esotropia (HP:0000565)
Associated disease: CDD; CDKL5-deficiency disorder (ORPHA:505652)
Gene: STK11
Phenotype: Sporadic (HP:0003745)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Neoplasm of the small intestine (HP:0100833)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Intussusception (HP:0002576)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Clubbing (HP:0001217)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Azoospermia (HP:0000027)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Neoplasm (HP:0002664)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Gastrointestinal carcinoma (HP:0002672)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Gastrointestinal carcinoma (HP:0002672)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: STK11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: STK11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Oral melanotic macule (HP:0032451)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Labial melanotic macule (HP:0032454)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: STK11
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: STK11
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Bladder polyp (HP:0031261)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Vomiting (HP:0002013)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Biliary tract neoplasm (HP:0100574)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Precocious puberty with Sertoli cell tumor (HP:0008204)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Adult onset (HP:0003581)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: STK11
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Numerous nevi (HP:0001054)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Atypical nevus (HP:0001062)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Melanonychia (HP:0100644)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Atypical nevi in non-sun exposed areas (HP:0001074)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Gene: STK11
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Teratoma (HP:0009792)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: STK11
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Anemia (HP:0001903)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Peutz-Jeghers syndrome; Hamartomatous intestinal polyposis; PJS (ORPHA:2869)
Gene: STK11
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: STK11
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)
Gene: STK11
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: STK11
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: PEUTZ-JEGHERS SYNDROME (OMIM:175200)