Genes?

Curated: Developmental and epileptic encephalopathy, Glycosylphosphatidylinositol biosynthesis defect, glycosylphosphatidylinositol biosynthesis defect 18

Unreviewed: Arthrogryposis multiplex congenita, Ataxia, Brachydactyly, Breast Cancer, Breast neoplasm, Camptodactyly of fingers, Central Visual Impairment, Cerebellar atrophy, Cerebral cortical atrophy, Congenital Exomphalos, Congenital Pectus Carinatum, Developmental Delay, Developmental disability, Epileptic encephalopathy, Glycosylphosphatidylinositol deficiency, Liver carcinoma, Macroglossia, Malignant Neoplasm, Microcephaly, Nystagmus, Pena Shokeir syndrome, Posteriorly Rotated Ear

Curated: Cold paroxysmal hemoglobinuria, Global developmental delay, Hemoglobinuria paroxysmal, Intellectual developmental disorder seizures hypotonia skeletal, Intellectual developmental disorder seizures dysmorphic skeletal, Paroxysmal nocturnal hemoglobinuria, Myopia, multiple congenital anomalies-hypotonia-seizures syndrome 3

Unreviewed: Anemia, Bone disease, Brachycephaly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cerebellar atrophy, Cerebellar diseases, Cerebellar Hypoplasia, Cerebral Atrophy, Congenital abnormalities, Congenital disorder of glycosylation, Congenital Malformation Syndrome, Congenital Pectus Excavatum, Dermatographic urticaria, Developmental Delay, Developmental disability, Developmental regression, Dysmorphism, Epilepsy, Epileptic encephalopathy, Esotropia, Glycogen storage disease, Hearing loss, High palate, Hyperopia, Hypophosphatasia, Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome, Macrocephaly, Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Myeloproliferative disorder, Nephrocalcinosis, Nystagmus, Osteopenia, Osteoporosis, Paroxysmal cold hemoglobinuria, Paroxysmal Hemoglobinuria, Patent ductus arteriosus, Renal cyst, Restrictive cardiomyopathy, Scoliosis, Seizures, Squamous cell carcinoma, Strabismus, Urticaria, Xeroderma pigmentosum

Curated: Basal cell carcinoma, Biliary tract cancer, Breast cancer, Cancer, Cervical cancer, Colorectal adenoma, Colorectal cancer, Melanoma, Endometrial cancer, Esophageal cancer, Estrogen-receptor negative breast cancer, Gastric cancer, Glycosylphosphatidylinositol biosynthesis defect, Gout, Hepatocellular carcinoma, Lung cancer, Neurodevelopmental disorder, Non-hodgkins lymphoma, Non-melanoma skin carcinoma, Ovarian cancer, Ovarian serous carcinoma, Pancreatic cancer, Prostate cancer, Squamous cell carcinoma, Venous thromboembolism, glycosylphosphatidylinositol biosynthesis defect 21

Unreviewed: Asthma, Atrophy, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Blau syndrome, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cerebellar Hypoplasia, Cerebral Atrophy, Cholangiocarcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal Neoplasms, Congenital heart defects, Congestive Heart Failure, Deafness, Developmental Delay, Developmental disability, Diabetes mellitus, type 2, Epilepsy, Epithelial ovarian carcinoma, Erythroblastic Leukemia, Ewing sarcoma, Facial dysmorphism syndrome, Focal myoclonic seizures, Gastric Cancer, Gastritis, Glioblastoma, Glioma, Hearing Loss, Heart Failure, Hypertension, Intellectual developmental disorder, Intrahepatic Cholangiocarcinoma, Left Ventricular Hypertrophy, LEOPARD Syndrome, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lymphatic metastasis, Lymphocytic Leukemia, Lymphoma, Malignant melanoma of skin, Malignant Neoplasm, Mammary Neoplasms, Medulloblastoma, Meningioma, Mental retardation, Multiple myeloma, Myeloproliferative disorder, Nasopharyngeal Carcinoma, Neoplasms, Osteoporosis, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic neoplasm, Peritonitis, Polycystic Ovary Syndrome, Pulmonary Fibrosis, Sarcoma, Sarcopenia, Sclerocystic Ovaries, Scleroderma, Scoliosis, Seizures, Skin cancer, Skin neoplasm, Stomach Carcinoma, Stomach Neoplasms, Synovial sarcoma, Thyroid Carcinoma, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine neoplasm

Curated: N/A

Unreviewed: N/A

Curated: Desbuquois syndrome, Hyperphosphatasia with intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 1

Unreviewed: Accessory Nipple, Autism, Brachycephaly, Cerebral cortical atrophy, Clinodactyly, Congenital Anomaly Of Rectum, Congenital Epicanthus, Congenital heart defects, Congenital Malformation Syndrome, Congenital Pectus Excavatum, Developmental Delay, Developmental disability, Esotropia, Hearing Loss, High palate, Hirschsprung Disease, Hydronephrosis, Hyperopia, Hyperphosphatasemia With Bone Disease, Hyperphosphatasia With Mental Retardation, Hypertension, Intellectual developmental disorder, Malocclusion, Mental retardation, Micrognathism, Multicystic renal dysplasia, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Papillorenal syndrome, Plagiocephaly, Posteriorly Rotated Ear, Scoliosis, Seizure, Seizures

Curated: Bipolar disorder, Global developmental delay, Glycosylphosphatidylinositol biosynthesis defect, Hyperphosphatasia with intellectual disability syndrome, Uranostaphyloschisis, congenital disorder of glycosylation

Unreviewed: Accessory Nipple, Autism, Brachycephaly, Clinodactyly, Cognition disorder, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital Pectus Excavatum, Developmental Delay, Dysmorphic Features, Epilepsy, Esotropia, Frontotemporal dementia, Glycosylphosphatidylinositol Deficiency, High palate, Hirschsprung Disease, Hydronephrosis, Hypercoagulability Syndrome, Hyperopia, Hyperphosphatasia With Mental Retardation, Infantile Spasms, Intellectual developmental disorder, Macroglossia, Malocclusion, Mental retardation, Micrognathism, Myoclonic Epilepsy, Nervous System Disorder, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Plagiocephaly, Scoliosis, Seizure, Seizures, Squamous cell carcinoma, West Syndrome

Curated: Asthma

Unreviewed: Bardet-Biedl Syndrome, Breast Cancer, Breast Carcinoma, Breast neoplasm, Eczema, Hereditary breast and ovarian cancer syndrome, Malignant Neoplasm, MORBID OBESITY AND SPERMATOGENIC FAILURE, Polydactyly, Rod-cone dystrophy

Curated: Hyperphosphatasia with intellectual disability syndrome, Mitochondrial disease, hyperphosphatasia with intellectual disability syndrome 6

Unreviewed: Accessory Nipple, Autism, Brachycephaly, Burkitt lymphoma, Cataract, Central Visual Impairment, Clinodactyly, Congenital Epicanthus, Congenital Pectus Excavatum, Developmental Delay, Developmental disability, Developmental regression, Dysmorphism, Echogenic Bowel, Elbow flexion contracture, Esotropia, Glycosylphosphatidylinositol Deficiency, High palate, Hip Contracture, Hirschsprung Disease, Hydronephrosis, Hyperopia, Hyperphosphatasia With Mental Retardation, Intellectual developmental disorder, Macrostomia, Malocclusion, Mental retardation, Microcephaly, Micrognathism, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Osteopenia, Plagiocephaly, Scoliosis, Seizure, Seizures, Strabismus, Syndactyly Of The Toes

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A