Genes?

Curated: Alveolar capillary dysplasia, Congenital alveolar capillary dysplasia, Gastrointestinal stromal tumor, Pulmonary hypertension, Lung disease, Mastocytosis, Vacterl association, Ventricular septal defect

Unreviewed: Adenocarcinoma, Agenesis Of Gallbladder, Alveolar Rhabdomyosarcoma, Amyloidosis Cutis Dyschromia, Anemia, Annular pancreas, Anomalous pulmonary venous return, Aortic Valve Sclerosis, Asplenia, Atherosclerosis, Atrial Septal Defect, Autism Spectrum Disorder, Avellino Corneal Dystrophy, Barrett esophagus, Benign Prostatic Hyperplasia, Bicuspid aortic valve, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Capillary infantile hemangioma, Carcinogenesis, Cholangiocarcinoma, Cholestasis, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital anomalies of kidney and urinary tract, Congenital anomaly of digestive tract, Congenital Atresia Of Pulmonary Valve, Congenital diaphragmatic hernia, Congenital Heart Disease, Congenital Hemihypertrophy, Congenital hypertrophic pyloric stenosis, Congenital Malformation Syndrome, Congenital malrotation of intestine, Congenital ocular coloboma, Corneal dystrophy, Cornelia De Lange Syndrome, Development Disorder, Developmental disability, Diabetes Mellitus, Ductal Carcinoma, Duodenal Atresia, Esophageal Atresia, Esophageal Cancer, Esophageal Carcinoma, Esophageal squamous cell carcinoma, Fanconi Anemia, Fetal megacystis, Gastroesophageal Reflux Disease, Gastrointestinal atresia, Gastrointestinal disease, Gastrointestinal Diseases, Gastroparesis, Heart disease, Hemihyperplasia, Hereditary Hemochromatosis, Hirschsprung Disease, Hydronephrosis, Hypertension, Hypertrophic Pyloric Stenosis, Hypoplastic Left Heart Syndrome, Imperforate anus, Intervertebral Disc Disorder, Intestinal Volvulus, Invasive Duct and Lobular Carcinoma, Liver Fibrosis, Lung Cancer, Lung carcinoma, Lung Diseases, Lung neoplasms, Lymphatic Metastasis, Malignant Neoplasm, Mammary Neoplasms, Meckel Diverticulum, Mental retardation, Morgagni diaphragmatic hernia, Mouth disease, Multiple Trichoepithelioma, Neoplasms, Obesity, Osteosarcoma, Ovarian neoplasm, Pancreatic ductal carcinoma, Pancreatitis, Papillary thyroid carcinoma, Patent ductus arteriosus, Persistent Fetal Circulation, Posterolateral diaphragmatic hernia, Prostate cancer, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary Fibrosis, Pulmonary surfactant metabolism dysfunction, Respiratory Failure, Rhabdomyosarcoma, Stomach Carcinoma, Stomach Neoplasms, Tetralogy of Fallot, Urethral atresia, Urogenital abnormalities, VACTERL Association

Curated: Androgenetic alopecia, Cerebrovascular disorder, Erectile dysfunction, Glioma, Major depressive disorder, Mood disorder, Ovarian cancer, Ovarian serous carcinoma, Stroke, Urinary bladder cancer

Unreviewed: Absent uvula, Alveolar Rhabdomyosarcoma, Benign Prostatic Hyperplasia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Cerebral Infarction, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cleft Lip With Or Without Cleft Palate, Cleft palate, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Developmental disability, Disorders of sex development, Endometrial neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Gastrointestinal Diseases, Gastroparesis, Hearing Loss, Ischemic Stroke, Liver carcinoma, Lung carcinoma, Lung neoplasms, Lymphatic Metastasis, Malignant Neoplasm, Mammary Neoplasms, Neoplasms, Prostate cancer, Prostatic hyperplasia, Rhabdomyosarcoma, Sex Differentiation Disorders, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Triple negative breast cancer, Triple Negative Breast Neoplasms, Trisomy, Uranostaphyloschisis

Curated: N/A

Unreviewed: N/A

Curated: 14q11.2 microduplication syndrome, Autism, Congenital microcephaly, Congenital neurologic anomalies, Epilepsy, Global developmental delay, Intellectual developmental disorder, Lissencephaly, Microcephaly, Nervous system disease, Neurodevelopmental disorder, Developmental and epileptic encephalopathy, Rett syndrome, Seizures, Intellectual disability, Strabismus, FOXG1 disorder

Unreviewed: 14q12 microdeletion syndrome, Abnormal Involuntary Movement, Acrocallosal Syndrome, Agenesis Of Corpus Callosum, Aicardi syndrome, Angelman Syndrome, Anxiety Disorder, Apraxia, Astrocytoma, Autism Spectrum Disorder, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Brain disease, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Cardiomyopathy, Cerebral cortical atrophy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chorea, Choreoathetosis, Clonic Seizures, Colorectal neoplasm, Congenital Clubfoot, Congenital Epicanthus, Congenital Microcephaly, Congenital Pectus Excavatum, Congenital Phimosis, Contracture, Corpus callosum agenesis, Development Disorder, Developmental Delay, Developmental disability, Developmental regression, Diabetes mellitus, Diabetes mellitus, type 2, Dilated cardiomyopathy, Dyskinetic Syndrome, Dysmorphic Features, Dysplastic corpus callosum, Dystonia, Epileptic encephalopathy, Esotropia, FOXG1 Syndrome, Gastroesophageal Reflux Disease, Glioblastoma, Glioma, Growth disorder, Head and neck neoplasm, Hepatoblastoma, Hepatocellular carcinoma, Holoprosencephaly, Hyperkinesia, Hypoplasia Of Corpus Callosum, Hypoplastic hippocampus, Hypotonia, Hypotonic seizures, Impaired Cognition, Infantile Spasms, Jacksonian Seizure, Language development disorders, Learning disorders, Lennox-Gastaut Syndrome, Liver carcinoma, Lung carcinoma, Lymphoma, Macrocephaly, Macroglossia, Macrostomia, Major depressive disorder, Malformation of cortical development, Malignant Neoplasm, Malocclusion, Medulloblastoma, Mental Depression, Mental retardation, Microlissencephaly, Mitochondrial disease, Motor delay, Mouth disease, Movement disorder, Movement Disorders, Mucopolysaccharidosis, Multiple Congenital Anomalies, Myoclonic Epilepsy, Nasopharyngeal carcinoma, Neoplasms, Nephrolithiasis, Nervous System Disorder, Neurodevelopmental Disorders, Neurofibromatosis, Nystagmus, Oculomotor apraxia, Orofacial cleft, Orofaciodigital Syndrome, Osteoporosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pachygyria, Partial Or Complete Agenesis Of Corpus Callosum, Pitt-Hopkins Syndrome, Platelet disorder, Renal cell carcinoma, Rett Syndrome, Rubinstein-Taybi Syndrome, Schizophrenia, Scoliosis, Seizure, Skin carcinoma, Speech Disorders, Spinal Cord Neoplasms, Spinocerebellar ataxia, Stereotyped Behavior, Urinary bladder cancer, Urinary bladder neoplasms, Visual disorder, West Syndrome

Curated: N/A

Unreviewed: Rett Syndrome

Curated: Congenital heart malformation, Conotruncal cardiac defect, Holoprosencephaly, Microform holoprosencephaly, Syntelencephaly, Noonan syndrome, Semilobar holoprosencephaly, Septopreoptic holoprosencephaly, Tetralogy of fallot, congenital heart disease

Unreviewed: Agenesis Of Corpus Callosum, Alobar Holoprosencephaly, Ambiguous Genitalia, Asplenia, Asthma, Breast neoplasm, Choanal Atresia, Ciliopathies, Colorectal Cancer, Congenital Coloboma Of Iris, Congenital heart defect, Congenital heart defects, Congenital Hypoplasia Of Penis, Cyclocephaly, Duodenal Atresia, Dwarfism, Friedreich Ataxia, Fused incisors, Head and neck cancer, Head And Neck Carcinoma, Hemangioma, Hypothyroidism, Lobar Holoprosencephaly, Mental retardation, Microcephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Myeloid Leukemia, Panhypopituitarism, Prostate cancer, Renal agenesis, Renal Carcinoma, Scoliosis, Semilobar Holoprosencephaly, Septopreoptic Holoprosencephaly, Situs ambiguus, Strabismus, Tetralogy of Fallot, Transposition Of Great Vessels, Transposition of the great arteries, Ventricular septal defect

Curated: Distal renal tubular acidosis, Nonsyndromic hearing loss, Breast cancer, Craniofacial abnormalities, Deafness, Hearing loss, Hereditary hearing loss, Pendred syndrome, Triple negative breast cancer

Unreviewed: Anemia, Chromophobe Carcinoma, Compensated hypothyroidism, Congenital bilateral absence of vas deferens, Congenital Sensorineural Hearing Loss, Cystic Fibrosis, Distal Renal Tubular Acidosis, Dystonia, Hearing Loss, Hyperparathyroidism, Hypothyroidism, Kidney Disease, Kidney neoplasm, Large cell carcinoma, Leukemia, Mental retardation, Neoplasms, Oncocytoma of kidney, Pendred Syndrome, Renal Carcinoma, Renal cell carcinoma, Renal Tubular Acidosis, Speech Disorders, Stomach Carcinoma, Stomach Neoplasms, Thyroid Carcinoma, Tracheal Stenosis

Curated: Carotid artery disease, Central nervous system cancer, Dental caries, Glioma, Insomnia, Obstructive sleep apnea syndrome, Ocular hypotension

Unreviewed: Colorectal neoplasm, Ectodermal Dysplasia, Lip and Oral Cavity Carcinoma, Malignant neoplasm of mouth, Mouth neoplasm, Renal cell carcinoma, Retinitis Pigmentosa, Squamous cell carcinoma

Curated: Color vision deficiency, Craniofacial microsomia, Goldenhar syndrome, Hemifacial microsomia, Migraine, Tooth agenesis, Diabetes mellitus type 1, T-cell immunodeficiency

Unreviewed: Aural Atresia, Congenital, Congenital aural atresia, Congenital Hypoplasia Of Thymus, Congenital microtia, DiGeorge Syndrome, Lymphopenia, Microtia

Curated: Ciliary dyskinesia, Tetralogy of fallot, ciliary dyskinesia, primary, 43

Unreviewed: AL-Raqad Syndrome, Allergic rhinitis, Anaplastic Ependymoma, Asthma, Atrioventricular septal defect, Autoimmune Diseases, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiectasis, Bronchitis, Carcinoma, Choroid Plexus Papilloma, Chronic disease, Chronic obstructive pulmonary disease, Ciliopathies, Ciliopathy, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital heart defect, Congenital heart septal defect, Cystic Fibrosis, Dextrocardia, Double outlet right ventricle, Ependymoma, Gastritis, Gastrointestinal neoplasm, Heterotaxy syndrome, Hydrocephalus, Idiopathic pulmonary fibrosis, Kartagener Syndrome, Laryngeal Carcinoma, Laryngeal neoplasm, Liver carcinoma, Lung disease, Lupus Erythematosus, Lymphatic metastasis, Lymphopenia, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Nasal polyposis, Neoplasms, Ovarian neoplasm, Pineal Gland Neoplasm, Prostate cancer, Prostatic neoplasm, Rheumatoid arthritis, Rhinitis, Situs Inversus, Stomach Carcinoma, Stomach Neoplasms, Stroke, Transposition of the great arteries, Urinary bladder cancer