1151
|
|
|
- |
- |
Curated: N/A
Unreviewed: N/A
|
1152
|
|
|
Hypoxanthine phosphoribosyltransferase 1 |
HGPRT, HPRT |
Curated: Gout, Hyperuricemia, Neurotic disorder, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, lesch-nyhan syndrome
Unreviewed: Alzheimer disease, Anemia, Arthritis, Ataxia Telangiectasia, Attention Deficit Hyperactivity Disorder, Atypical Mole Melanoma Syndrome, Autoimmune Diseases, Bone Marrow Diseases, Borjeson-Forssman-Lehmann Syndrome, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, Cerebral palsy, Cholestasis of pregnancy, Choreoathetosis, Choriocarcinoma, Chronic obstructive pulmonary disease, Cognition disorder, Cognitive disorder, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal neoplasm, Congenital Chromosomal Disease, Connective Tissue Disease, Cortical development malformation, Demyelinating Diseases, Dermatomyositis, Developmental Delay, Developmental disability, Diabetes Mellitus, Duchenne Muscular Dystrophy, Dwarfism, Dysarthria, Dysmorphic Features, Dysphagia, Dystonia, Encephalitis, Endometrial Stromal Sarcoma, Endometriosis, Esophagus Neoplasm, Ewing sarcoma, Fanconi Anemia, Fibrosarcoma, Galactosialidosis, Glioblastoma, Glioma, Gouty arthritis, Guillain-Barre Syndrome, Hematological Disease, Hemiplegia/hemiparesis, Hemoglobinuria paroxysmal, Hepatocellular carcinoma, Hereditary elliptocytosis, Histiocytosis, Hyper-IgM Immunodeficiency Syndrome, Hyperglycemia, Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency, Inborn Errors Of Metabolism, Inflammatory Bowel Disease, Kidney Disease, Kidney Failure, Laryngeal neoplasm, Lesch-Nyhan Syndrome, Leukemia, Leukopenia, Liver carcinoma, Liver neoplasm, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative Syndrome, X-Linked, Malignant Neoplasm, Melanoma, Meningioma, Mental retardation, Metabolic syndrome, Motor delay, Movement Disorders, Mucolipidosis, Multiple myeloma, Multiple Sclerosis, Myelodysplastic syndrome, Myeloid Leukemia, Myeloproliferative disorder, Myositis, Nasopharyngeal carcinoma, Neoplasms, Nephrolithiasis, Nervous system disease, Nervous System Disorder, Neuroblastoma, Neurodevelopmental Disorders, Oculocerebrorenal Syndrome, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian neoplasm, Papillary thyroid cancer, Papillary thyroid carcinoma, Paroxysmal nocturnal hemoglobinuria, Podagra, Polycystic ovary syndrome, Proliferative Vitreoretinopathy, Promyelocytic Leukemia, Prostate cancer, Prostatic neoplasm, Renal cell carcinoma, Renal Insufficiency, Rett Syndrome, Rheumatoid arthritis, Rotator cuff syndrome, Sarcoma, Scleroderma, Septicemia, Sickle cell anemia, Simpson-Golabi-Behmel Syndrome, Small cell lung carcinoma, Spinal Cord Diseases, Squamous cell carcinoma, Stomach neoplasms, Testicular atrophy, Thyroid cancer, Thyroid Neoplasm, Uric Acid Renal Calculus, Uric Acid Urolithiasis, Urinary bladder neoplasms, Werner syndrome, Xeroderma Pigmentosum
|
1153
|
|
|
Hypoxanthine phosphoribosyltransferase 1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1154
|
|
|
Hypoxanthine phosphoribosyltransferase 1 pseudogene 2 |
HPRTP2 |
Curated: N/A
Unreviewed: N/A
|
1155
|
|
|
Hypoxanthine phosphoribosyltransferase 1 pseudogene 3 |
HPRTP3, HPRTP4 |
Curated: N/A
Unreviewed: N/A
|
1156
|
|
|
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 |
BLOC3S1, HPS |
Curated: Hermansky-pudlak syndrome, Oligodendroglioma, hermansky-pudlak syndrome 1
Unreviewed: Albinism, Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells, Bartter syndrome, Benign Prostatic Hyperplasia, Blood Coagulation Disorders, Breast Cancer, Breast Carcinoma, Cardiomyopathy, Chediak-Higashi Syndrome, Colitis, Colorectal Cancer, Crohn disease, End Stage Liver Disease, Hemophagocytic Syndrome, Hemorrhagic disease, Hermansky-Pudlak Syndrome, Hermansky-Pudlak Syndrome With Pulmonary Fibrosis, Hypopigmentation Disorder, Hypopigmentation-Immunodeficiency Disease, Inflammatory Bowel Disease, Kidney Disease, Leukemia, Limb-Girdle Muscular Dystrophy, Lung disease, Lung Diseases, Lymphohistiocytosis, Melanocytic nevus, Melanoma, Metabolic syndrome, Nephrocalcinosis, Nystagmus, Ocular albinism, Oculocutaneous albinism, Pancreatic ductal carcinoma, Platelet disorder, Platelet Storage Pool Deficiency, Pulmonary Fibrosis, Renal Insufficiency, Schizophrenia, Stroke, Usher Syndrome, Visual disorder
|
1157
|
|
|
HPS1 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1158
|
|
|
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 |
BLOC2S1, SUTAL |
Curated: Ferroxidase deficiency, Hermansky-pudlak syndrome, Thrombocytopenia, hermansky-pudlak syndrome 3
Unreviewed: Albinism, Colorectal Cancer, Hermansky-Pudlak Syndrome, Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis, Horizontal nystagmus, Hypopigmentation Disorder, Inflammatory bowel disease, Nystagmus, Platelet disorder, Visual disorder
|
1159
|
|
|
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 |
BLOC3S2, LE |
Curated: Epilepsy, Generalized epilepsy, Hermansky-pudlak syndrome, Interstitial lung disease, Schizophrenia, Stroke, hermansky-pudlak syndrome 4
Unreviewed: Albinism, Blood Coagulation Disorders, Colitis, Hermansky-Pudlak Syndrome, Hermansky-Pudlak Syndrome With Pulmonary Fibrosis, Horizontal nystagmus, Inflammatory bowel disease, Ischemic Stroke, Lung disease, Lung Diseases, Ocular albinism, Oculocutaneous albinism, Pulmonary Fibrosis, Respiratory Failure, Stomach neoplasms
|
1160
|
|
|
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
AIBP63, BLOC2S2 |
Curated: Attention deficit hyperactivity disorder, Hermansky-pudlak syndrome, Lewy body disease, Scoliosis, Substance abuse, Thrombocytopenia, hermansky-pudlak syndrome 5
Unreviewed: Albinism, Amyloidosis, Blood coagulation disorder, Blood Coagulation Disorders, Breast Cancer, Breast Carcinoma, Carcinosarcoma, Colitis, Colon Carcinoma, Colonic Neoplasms, Hermansky-Pudlak Syndrome, Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis, Horizontal nystagmus, Hypopigmentation Disorder, Inflammatory Bowel Disease, Liver carcinoma, Lung carcinoma, Lung Neoplasms, Malignant Neoplasm, Neoplasms, Ocular albinism, Peritoneal Carcinomatosis, Platelet disorder, Prostate cancer, Strabismus, Triple Negative Breast Neoplasms
|