TaoMedAI/RareMedData huggingface dataset:
Gene: CDK5
Phenotype: Micrognathia (HP:0000347)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Persistent head lag (HP:0032988)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Short neck (HP:0000470)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Gene: CDK6
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Rectoperineal fistula (HP:0004792)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Visual impairment (HP:0000505)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDK8
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Gene: CDKN1A
Phenotype: Hypergastrinemia (HP:0500167)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Galactorrhea (HP:0100829)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Confusion (HP:0001289)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Lethargy (HP:0001254)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Coma (HP:0001259)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Confetti-like hypopigmented macules (HP:0007449)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Insulinoma (HP:0012197)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Amenorrhea (HP:0000141)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Osteolysis (HP:0002797)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Nausea (HP:0002018)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Constipation (HP:0002019)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Decreased male libido (HP:0040306)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Diarrhea (HP:0002014)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Vomiting (HP:0002013)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Thymoma (HP:0100522)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Anorexia (HP:0002039)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary thyrotropic cell adenoma (HP:0011762)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary gonadotropic cell adenoma (HP:0011759)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary null cell adenoma (HP:0011761)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Melena (HP:0002249)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Hematemesis (HP:0002248)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Decreased vigilance (HP:0032044)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Angiofibromas (HP:0010615)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Headache (HP:0002315)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Dehydration (HP:0001944)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Large cafe-au-lait macules with irregular margins (HP:0005605)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Impotence (HP:0000802)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Short attention span (HP:0000736)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Depression (HP:0000716)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Goiter (HP:0000853)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Adrenocortical abnormality (HP:0000849)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Hypertension (HP:0000822)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Ependymoma (HP:0002888)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Meningioma (HP:0002858)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Glucagonoma (HP:0030404)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Intestinal carcinoid (HP:0006723)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1A
Phenotype: Weight loss (HP:0001824)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Hypergastrinemia (HP:0500167)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Galactorrhea (HP:0100829)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Confusion (HP:0001289)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Lethargy (HP:0001254)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Coma (HP:0001259)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Confetti-like hypopigmented macules (HP:0007449)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Confetti-like hypopigmented macules (HP:0007449)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Abnormality of pancreas physiology (HP:0012091)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Insulinoma (HP:0012197)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Insulinoma (HP:0012197)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Amenorrhea (HP:0000141)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Osteolysis (HP:0002797)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Nausea (HP:0002018)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Constipation (HP:0002019)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Decreased male libido (HP:0040306)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Diarrhea (HP:0002014)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Diarrhea (HP:0002014)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Vomiting (HP:0002013)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Thymoma (HP:0100522)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)