191471
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Urocanate hydratase 1 |
HMFN0320, UROCD |
Curated: Anorectal malformation, Ataxia, Hepatocellular carcinoma, Intellectual developmental disorder, Hypertension, Urocanate hydratase deficiency
Unreviewed: Chromosomal instability, Dwarfism, Dysarthria, Liver carcinoma, Mental retardation, Methylmalonic acidemia, Rubral Tremor, Urocanase Deficiency
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191472
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Uroporphyrinogen decarboxylase |
PCT, UPD |
Curated: Head and neck neoplasms, Hepatoerythropoietic porphyria, Porphyria cutanea tarda, Porphyria
Unreviewed: 3M Syndrome, Acne, Acromicria, Alopecia, Anemia, Angelman Syndrome, Aplastic anemia, Appendicitis, Autism, Autism Spectrum Disorder, Beckwith-Wiedemann Syndrome, Blepharophimosis, Burkitt`s Lymphoma, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome, Chronic Obstructive Pulmonary Disease, Cirrhosis, Colorectal Cancer, Congenital Chromosomal Disease, Congenital diaphragmatic hernia, Congenital Heart Disease, Crigler-Najjar syndrome, Cystic Fibrosis, Dementia, Dermatologic Disorders, Development Disorder, Developmental Delay, Diabetes Insipidus, Diabetes mellitus, type 2, Embryonal Rhabdomyosarcoma, Endocarditis, Epilepsy, Erythropoietic Protoporphyria, Gastrointestinal stromal tumor, Gilbert Disease, Glaucoma, Head and neck cancer, Head And Neck Carcinoma, Head And Neck Neoplasms, Head Neoplasms, Hemochromatosis, Hepatoblastoma, Hepatocellular carcinoma, Hepatoerythropoietic Porphyria, Hereditary Hemochromatosis, Hypertrichosis, Hypodysfibrinogenemia, Hypopigmentation Disorder, Hypospadias, Intermittent Porphyria, Iron Overload, Kidney Disease, Kidney Failure, Leukemia, Liver carcinoma, Liver neoplasms, Malignant Neoplasm, Mental retardation, Metabolic Diseases, Myeloblastic Leukemia, Myelodysplastic Syndrome, Neck Cancer, Neck Neoplasms, Neoplasm of head, Neoplasms, Non-Alcoholic Fatty Liver Disease, Nonorganic Psychosis, Obesity, Onycholysis, Pancreatitis, Patent ductus arteriosus, Paternal uniparental disomy of chromosome 14, Penile Hypospadias, Porphyria Cutanea Tarda, Prader-Willi Syndrome, Psychosis, Russell-Silver Syndrome, Scleroderma, Senile Dementia, Septicemia, Severe combined immunodeficiency disease, Sex Differentiation Disorders, Somatotropin Deficiency, Status Epilepticus, Stroke, Sulfocysteinuria, Thyroid Nodule, Trichohepatoenteric Syndrome, Upper Aerodigestive Tract Neoplasms, Variegate Porphyria
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191473
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Uroporphyrinogen III synthase |
Mgu, UROIIIS |
Curated: Congenital erythropoietic porphyria, Cutaneous porphyria, Porphyria
Unreviewed: Absent eyebrow, Alopecia, Anemia, Cholelithiasis, Conjunctivitis, Deficiency Of Uroporphyrinogen III Synthase, Dwarfism, Ectropion, Erosion Of Cornea, Erythropoietic Protoporphyria, Glioblastoma, Glioma, Hydrops Fetalis, HYPERTRICHOSIS, Hypopigmentation Disorder, Immunologic Deficiency Syndromes, Inborn Errors Of Metabolism, Keratoconjunctivitis, Malignant Neoplasm, Metabolic Diseases, Myelodysplastic Syndrome, Osteopenia, Porphyria Cutanea Tarda, Scleroderma, Skin Lesion
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191474
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U6 snRNA biogenesis phosphodiesterase 1 |
C16orf57, HVSL1, Mpn1, PN, hMpn1, hUsb1 |
Curated: Obstructive pulmonary disease, Dyskeratosis congenita
Unreviewed: Alopecia, Anemia, Breast neoplasm, Carcinogenesis, Cataract, Cholangiocarcinoma, Cirrhosis, Conjunctivitis, Dermatologic Disorders, Developmental Delay, Diabetes Mellitus, Dubowitz syndrome, Dwarfism, Dyskeratosis Congenita, Dystonia, Ectodermal dysplasia, Ectrodactyly, Esophageal Stenosis, Gingivitis, Growth disorder, Hypodontia, Hypoplasia of the maxilla, Leukopenia, Leukoplakia, Liver failure, Lung disease, Lymphoma, Malabsorption Syndrome, Malignant Neoplasm, Myelodysplasia, Myelodysplastic Syndrome, Myelodysplastic-Myeloproliferative Diseases, Myeloid leukemia, Nail dystrophy, Neural tube defect, Neutropenia, Osteoporosis, Osteosarcoma, Otitis media, Palmoplantar keratoderma, Pancreatic Neoplasm, Periodontitis, Poikiloderma, Poikiloderma With Neutropenia, Rett syndrome, Rothmund-Thomson Syndrome, Scoliosis, Sinusitis, Stomach neoplasms, Taurodontism, Trichohepatoenteric Syndrome
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191475
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Unconventional SNARE in the ER 1 |
D12, MDS032, P31, SLT1 |
Curated: N/A
Unreviewed: N/A
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191476
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Upstream transcription factor 1 |
FCHL, FCHL1, HYPLIP1, MLTF, MLTFI, UEF, bHLHb11 |
Curated: Cardiovascular disease, Diabetes mellitus type 2, Hyperlipidemia
Unreviewed: Adenocarcinoma, Alzheimer disease, Arteriosclerosis, Asthma, Atherosclerosis, Azoospermia, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiovascular Diseases, Cholangiocarcinoma, Colon Carcinoma, Colonic Neoplasms, Complement component deficiency, Congenital myasthenic syndrome, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Down syndrome, Dyslipidemias, Fragile X Syndrome, Gastrointestinal neoplasm, Glioblastoma, Glioma, Hepatitis c, Hepatocellular carcinoma, Hypercholesterolemia, Hyperlipoproteinemia, Hypertension, Impaired Cognition, Ischemic Stroke, Kidney failure, Knee osteoarthritis, Liver carcinoma, Liver cirrhosis, Liver neoplasms, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lymphocytic Leukemia, Male infertility, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Metabolic Syndrome, Microphthalmos, Multiple polyposis syndrome, Myeloid leukemia, Nasopharyngeal carcinoma, Neoplasms, Nephrotic syndrome, Neural tube defect, Neurofibromatosis, Non-obstructive azoospermia, Noonan Syndrome, Nuchal Bleb, Obesity, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostatic neoplasm, Renal cell carcinoma, Senile Plaques, Skin carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm
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191477
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Upstream transcription factor 1 pseudogene 1 |
USF1P |
Curated: N/A
Unreviewed: N/A
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191478
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Upstream transcription factor 2, c-fos interacting |
FIP, bHLHb12 |
Curated: Insomnia
Unreviewed: Adenocarcinoma, Allergic rhinitis, Alzheimer disease, Asthma, Benign Prostatic Hyperplasia, Biliary Atresia, Breast Cancer, Breast Carcinoma, Carcinoma, Cerebellar ataxia, Colorectal Cancer, Diabetes mellitus, Diabetes mellitus, type 2, Diabetic neuropathy, Endometriosis, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Extrahepatic Biliary Atresia, Fragile X Syndrome, Hamman-Rich syndrome, Hepatocellular carcinoma, Hypercholesterolemia, Hyperlipoproteinemia, Intellectual developmental disorder, Intestinal Perforation, Iron Overload, Leukemia, Liver carcinoma, Liver Cirrhosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Mammary Neoplasms, Metabolic syndrome, Multicystic renal dysplasia, Multiple polyposis syndrome, Myelodysplastic Syndrome, Myeloid Leukemia, Neoplasms, Prostate cancer, Prostatic Hyperplasia, Rheumatoid arthritis, Stomach neoplasms, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Wiskott-Aldrich Syndrome
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191479
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Upstream transcription factor family member 3 |
KIAA2018 |
Curated: Cowden disease, Schizophrenia
Unreviewed: Carcinogenesis, Cowden Syndrome, Hamartoma, Malignant Neoplasm, Necrosis, Neoplasms, Papillary thyroid cancer, Papillary thyroid carcinoma, Sezary syndrome, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm
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191480
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USH1 protein network component harmonin |
AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst |
Curated: Isolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Hearing loss, Hereditary hearing loss, Meniere disease, Optic atrophy, Retinitis pigmentosa, Usher syndrome, nonsyndromic genetic hearing loss, Usher syndrome type 1
Unreviewed: Anxiety Disorder, Cataract, Cerebral cortical atrophy, Ciliopathies, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital hyperinsulinism, Congenital Sensorineural Hearing Loss, Developmental Delay, Disorder Of Eye, Hallucinations, Hearing Loss, Hemianopsia, Hereditary Retinal Dystrophy, Hypoxia, Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome, Intestinal Diseases, Kidney Cancer, Kidney neoplasm, Leukemia, Mental Depression, Mental retardation, Motor delay, Non-Syndromic Sensorineural Deafness, Nonsyndromic Deafness, Nyctalopia, Renal Carcinoma, Renal cell carcinoma, Retinal degeneration, Retinal Dystrophy, Retinitis Pigmentosa, Rod-cone dystrophy, Schizophrenia, Subcortical cerebral atrophy, Usher Syndrome, Vestibular disease
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