TaoMedAI/RareMedData huggingface dataset:
Gene: SUPT16H
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Autism (HP:0000717)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Unilateral facial palsy (HP:0012799)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Obesity (HP:0001513)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Cupped ear (HP:0000378)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Thickened helices (HP:0000391)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Micrognathia (HP:0000347)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: SUPT16H
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Torticollis (HP:0000473)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Gene: SUPT16H
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Trisomy 14q11.2; Dup(14)(q11.2); 14q11.2 microduplication syndrome (ORPHA:261229)
Gene: CHEK2
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Retinoblastoma (HP:0009919)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: CHEK2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Joint swelling (HP:0001386)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: CHEK2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Gene: CHEK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: CHEK2
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: CHEK2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Stomach cancer (HP:0012126)
Associated disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Gene: CHEK2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: CHEK2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OSTEOGENIC SARCOMA (OMIM:259500)
Gene: CHEK2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Glioma (HP:0009733)
Associated disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Gene: CHEK2
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the larynx (HP:0100605)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Fever (HP:0001945)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Leukemia (HP:0001909)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Gene: CHEK2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Colon cancer (HP:0003003)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Sarcoma (HP:0100242)
Associated disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Gene: CHEK2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Central primitive neuroectodermal tumor (HP:0030070)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Ependymoma (HP:0002888)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Melanoma (HP:0002861)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Meningioma (HP:0002858)
Associated disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Gene: CHEK2
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Abnormal tibial metaphysis morphology (HP:0006491)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Abnormal femoral metaphysis morphology (HP:0006489)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: CHEK2
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Weight loss (HP:0001824)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: CHEK2
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: CHEK2
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Choroid plexus carcinoma (HP:0030392)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CHEK2
Phenotype: Pain (HP:0012531)
Associated disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Gene: PLPBP
Phenotype: Fetal distress (HP:0025116)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Fetal distress (HP:0025116)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Poor speech (HP:0002465)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Clonic seizure (HP:0020221)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Focal aware motor seizure (HP:0020217)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Hypertonia (HP:0001276)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Motor delay (HP:0001270)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Seizure (HP:0001250)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT (OMIM:617290)
Gene: PLPBP
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: PLPBP
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)