TaoMedAI/RareMedData huggingface dataset:
Gene: BCAT2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCHE
Phenotype: Chronic infection (HP:0031035)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Neoplasm (HP:0002664)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BUTYRYLCHOLINESTERASE DEFICIENCY (OMIM:617936)
Gene: BCHE
Phenotype: Paralysis (HP:0003470)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Apnea (HP:0002104)
Associated disease: BUTYRYLCHOLINESTERASE DEFICIENCY (OMIM:617936)
Gene: BCHE
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCHE
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary butyrylcholinesterase deficiency; Hereditary pseudocholinesterase deficiency (ORPHA:132)
Gene: BCKDHA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Hypertonia (HP:0001276)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Lethargy (HP:0001254)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Seizure (HP:0001250)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Ataxia (HP:0001251)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Coma (HP:0001259)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Increased level of hippuric acid in urine (HP:0410066)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Vomiting (HP:0002013)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Positive 2,4-dinitrophenylhydrazine urine test (HP:6000124)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Elevated circulating L-alloisoleucine concentration (HP:0033155)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Cerebral edema (HP:0002181)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Elevated circulating branched chain amino acid concentration (HP:0008344)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Ketosis (HP:0001946)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Recurrent (HP:0031796)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Hallucinations (HP:0000738)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts (HP:4000207)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHA
Phenotype: Pancreatitis (HP:0001733)
Associated disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Gene: BCKDHB
Phenotype: Hyperisoleucinemia (HP:0010913)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Hyperleucinemia (HP:0010911)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Hypervalinemia (HP:0010910)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Lethargy (HP:0001254)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Seizure (HP:0001250)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: BCKDHB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Gene: CCND1
Phenotype: Stroke (HP:0001297)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Paraproteinemia (HP:0031047)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: CCND1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Tall stature (HP:0000098)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Paraganglioma (HP:0002668)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Paraganglioma (HP:0002668)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Bone pain (HP:0002653)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Hepatic hemangioma (HP:0031207)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: CCND1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Pulmonary capillary hemangiomatosis (HP:0005954)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Anorexia (HP:0002039)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Hyperproteinemia (HP:0002152)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Back pain (HP:0003418)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Pancreatic islet cell adenoma (HP:0008261)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Adult onset (HP:0003581)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: CCND1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Spinal hemangioblastoma (HP:0009713)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Papillary cystadenoma of the epididymis (HP:0009715)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Papillary cystadenoma of the epididymis (HP:0009715)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Vertigo (HP:0002321)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Vertigo (HP:0002321)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Headache (HP:0002315)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Papilledema (HP:0001085)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Limb pain (HP:0009763)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Cerebellar hemangioblastoma (HP:0006880)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Cerebellar hemangioblastoma (HP:0006880)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Palpitations (HP:0001962)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Fever (HP:0001945)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Anemia (HP:0001903)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Polycythemia (HP:0001901)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Polycythemia (HP:0001901)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Abnormality of vitamin B12 metabolism (HP:0004341)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Anxiety (HP:0000739)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Young adult onset (HP:0011462)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Myocarditis (HP:0012819)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Hypertension (HP:0000822)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Hypertension (HP:0000822)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Macular edema (HP:0040049)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Pallor (HP:0000980)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Pallor (HP:0000980)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Fatigue (HP:0012378)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Fatigue (HP:0012378)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Amyloidosis (HP:0011034)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: CCND1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Tinnitus (HP:0000360)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: CCND1
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CCND1
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: CCND1
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: CCND1
Phenotype: Weight loss (HP:0001824)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)