TaoMedAI/RareMedData huggingface dataset:
Gene: TP53
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Colon cancer (HP:0003003)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Colon cancer (HP:0003003)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Irritability (HP:0000737)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Anxiety (HP:0000739)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Depression (HP:0000716)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Emotional lability (HP:0000712)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Dementia (HP:0000726)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Psychosis (HP:0000709)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Hypertension (HP:0000822)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Hypertension (HP:0000822)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Purpura (HP:0000979)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Thin skin (HP:0000963)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Short telomere length (HP:0031413)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Megakaryocyte nucleus hyperlobulation (HP:0031388)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Central primitive neuroectodermal tumor (HP:0030070)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Microcephaly (HP:0000252)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: TP53
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: TP53
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Ependymoma (HP:0002888)
Associated disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Gene: TP53
Phenotype: Ependymoma (HP:0002888)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Melanoma (HP:0002861)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: TP53
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Growth delay (HP:0001510)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Fatigue (HP:0012378)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: TP53
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: TP53
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Abnormal tibial metaphysis morphology (HP:0006491)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Abnormal femoral metaphysis morphology (HP:0006489)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Gene: TP53
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Gene: TP53
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: ADRENOCORTICAL CARCINOMA, HEREDITARY (OMIM:202300)
Gene: TP53
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: TP53
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: TP53
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Soft tissue sarcoma (HP:0030448)
Associated disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Gene: TP53
Phenotype: Weight loss (HP:0001824)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Weight loss (HP:0001824)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP53
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: TP53
Phenotype: Visual impairment (HP:0000505)
Associated disease: CPP; Choroid plexus papilloma; Papilloma of choroid plexus (ORPHA:2807)
Gene: TP53
Phenotype: Visual impairment (HP:0000505)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: TP53
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: TP53
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Choroid plexus carcinoma (HP:0030392)
Associated disease: ADRENOCORTICAL CARCINOMA, HEREDITARY (OMIM:202300)
Gene: TP53
Phenotype: Choroid plexus carcinoma (HP:0030392)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: TP53
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: TP53
Phenotype: Pain (HP:0012531)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: TP73
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Seizure (HP:0001250)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Lissencephaly (HP:0001339)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Atelectasis (HP:0100750)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TP73
Phenotype: Abnormal mucociliary clearance (HP:0031602)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Gene: TPI1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Spasticity (HP:0001257)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Dystonia (HP:0001332)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Tremor (HP:0001337)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Central nervous system degeneration (HP:0007009)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Cholecystitis (HP:0001082)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Death in adolescence (HP:0011421)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Myopathy (HP:0003198)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Jaundice (HP:0000952)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Kyphosis (HP:0002808)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Death in infancy (HP:0001522)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Triose phosphate-isomerase deficiency (ORPHA:868)
Gene: TPI1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)
Gene: TPI1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (OMIM:615512)