Genes?

Curated: Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Spinocerebellar ataxia

Unreviewed: Amyotrophic Lateral Sclerosis, Asthma, Ataxia, Cerebellar atrophy, Chronic obstructive pulmonary disease, Colon Carcinoma, Colonic Neoplasms, Colorectal neoplasm, Coronary Arteriosclerosis, Cystic Fibrosis, Dysarthria, Lung Cancer, Lung carcinoma, Lung Diseases, Myelodysplastic syndrome, Myocardial Ischemia, Nasal polyposis, Neoplasms, Nervous System Diseases, Nystagmus, Osteoarthritis, Osteopenia, Osteoporosis, Peripheral axonal neuropathy, Peripheral Neuropathy, Prostatic neoplasm, Pulmonary Cystic Fibrosis, Respiratory Distress Syndrome, Sensorimotor neuropathy, Spastic paraplegia, Spinocerebellar Ataxia, Stomach Carcinoma, Stomach Neoplasms

Curated: N/A

Unreviewed: Colitis, Gastrointestinal disease, Neoplasms

Curated: Systemic scleroderma, Asthma, Ciliary dyskinesia, Connective tissue disease, Craniodiaphyseal dysplasia, Craniosynostosis, Desbuquois syndrome, Edema, Eye abnormalities, Hydrocephalus, Kidney disease, Rod-cone dystrophy, Short rib dysplasia-polydactyly syndrome

Unreviewed: Acrocephaly, Anodontia, Anxiety Disorder, Aqueductal Stenosis, Bicuspid aortic valve, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Celiac disease, Ciliopathies, Clinodactyly, Communicating Hydrocephalus, Congenital Epicanthus, Congenital Hydrocephalus, Congenital Pectus Excavatum, Cranioectodermal Dysplasia, Cystic Kidney Disease, Dental Enamel Hypoplasia, Diaphyseal dysplasia, Dolichocephaly, Ectodermal Dysplasia, Fetal Cerebral Ventriculomegaly, Frontal bossing, Gangrene, Gastrointestinal Diseases, Henoch-Schonlein Nephritis, High palate, Hydrocephalus Ex-Vacuo, Hypodontia, Hypomagnesemia, Hypoplasia Of Corpus Callosum, Inflammatory Bowel Disease, Kidney Disease, Liver Cyst, Liver failure, Liver Fibrosis, Metopic synostosis, Microdontia, Mountain sickness, Myopia, Neoplasms, Nephritis, Neurodegenerative Disorders, Nystagmus, Obstructive Hydrocephalus, Osteoporosis, Pelizaeus-Merzbacher disease, Retinal Dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Scleroderma, Septicemia, Short Rib-Polydactyly Syndrome, Spastic Paraplegia, Syndactyly, Syndactyly of fingers, Synostotic Anterior Plagiocephaly, Synostotic Posterior Plagiocephaly, Tarsal-Carpal Coalition Syndrome, Taurodontism, Trigonocephaly

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Jeune syndrome, Eczema, Polycystic kidney disease, Axenfeld-rieger syndrome, Coronary artery disease, Craniodiaphyseal dysplasia, Desbuquois syndrome, Anterior segment dysgenesis, Jeune thoracic dystrophy, Joubert syndrome, Kidney disease, Leber congenital amaurosis, Mainzer-saldino disease, Nephronophthisis, Optic atrophy, Orofaciodigital syndrome, Prostate cancer, Retinitis pigmentosa, Saldino-mainzer syndrome, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia, Urinary bladder cancer, IFT140-related recessive ciliopathy, autosomal dominant polycystic kidney disease

Unreviewed: Anemia, Anetoderma, Asphyxiating thoracic dystrophy, Brachydactyly, C syndrome, Cataract, Cholestasis, Ciliary dyskinesia, Ciliopathies, Ciliopathy, Congenital Cerebral Hernia, Congenital Hypoplasia Of Penis, Cranioectodermal Dysplasia, Cystic Kidney Disease, Developmental Delay, Diabetes Mellitus, Dwarfism, Foot Polydactyly, Frontal bossing, Glaucoma, Hearing Loss, Hemiplegia/hemiparesis, High palate, Hyperinsulinism, Hyperopia, Hypertension, Hyperuricemia, Hypogonadism, Infertility, Jeune Syndrome, Jeune Thoracic Dystrophy, Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy, Keratoconus, Kidney Disease, Kidney failure, Liver failure, Liver Fibrosis, Macroglossia, Macrostomia, Majewski Syndrome, Male infertility, Malformation of cortical development, Marinesco-Sjogren Syndrome, Meckel Syndrome, Mental retardation, Microdontia, Micromelia, Nystagmus, Obesity, Optic Atrophy, Osteochondrodysplasia, Paroxysmal dystonia, Polydactyly, Postaxial hand polydactyly, Renal cyst, Renal dysplasia, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, Renal Insufficiency, Retinal degeneration, Retinal Dystrophy, Retinitis Pigmentosa, Rhyns syndrome, Rod-cone dystrophy, Saldino-Mainzer Syndrome, Scaphocephaly, Short Rib-Polydactyly Syndrome, Skeletal Dysplasia, Syndactyly Of The Toes, Trigonocephaly

Curated: Jeune syndrome, Bardet-biedl syndrome, Ciliopathy, Desbuquois syndrome, Aplasia of the vermis, Gastrointestinal stromal tumor, Jeune thoracic dystrophy, Mainzer-saldino disease, Majewski syndrome, Metabolic syndrome, Nephronophthisis, Neurodevelopmental disorder, Nonalcoholic fatty liver disease, Optic atrophy, Psoriasis, Retinitis pigmentosa, Saldino-mainzer syndrome, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia, Diabetes mellitus type 2

Unreviewed: Asphyxiating thoracic dystrophy, Ataxia Telangiectasia, Atrioventricular septal defect, Bardet-Biedl Syndrome, Basal cell carcinoma, Basal cell nevus syndrome, Brachydactyly, Cataract, Cerebellar vermis agenesis, Cholelithiasis, Cholestasis, Ciliopathies, Congenital Hypoplasia Of Penis, Cryptorchidism, Diabetes Mellitus, Drusen, Dwarfism, Foot Polydactyly, Glaucoma, Glycogen storage disease, Gout, Gouty arthritis, Hearing Loss, Hyperbilirubinemia, Hyperinsulinism, Hypertension, Hypertriglyceridemia, Hypogonadism, Hypoplasia of the ovary, Isolated Somatotropin Deficiency, Jeune Syndrome, Jeune Thoracic Dystrophy, Keratoconus, Kidney Disease, Liver disease, Liver failure, Liver Fibrosis, Majewski Syndrome, Mental retardation, Micromelia, Multicystic renal dysplasia, Nephrotic Syndrome, Nijmegen Breakage Syndrome, Nystagmus, Obesity, Optic Atrophy, Osteochondrodysplasia, Pancreatitis, Polydactyly, Postaxial hand polydactyly, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, Renal Insufficiency, Retinitis Pigmentosa, Rod-cone dystrophy, Saldino-Mainzer Syndrome, Short Rib-Polydactyly Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Skeletal Dysplasia, Somatotropin Deficiency, Speech Disorders, Syndactyly of fingers, Syndactyly Of The Toes, T-cell leukemia, T-Cell Lymphoma/Leukemia, Thoracic dysplasia, Thoracic hypoplasia, VACTERL Association

Curated: N/A

Unreviewed: Achondroplasia, Ciliopathies, Colorectal Cancer, Colorectal neoplasm, Hepatocellular carcinoma, Idiopathic pulmonary fibrosis, Lymphatic metastasis, Malignant Neoplasm, Neoplasms, Pulmonary Fibrosis, Spondylometaphyseal dysplasia with dentinogenesis imperfecta

Curated: N/A

Unreviewed: N/A