261
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|
|
HCLS1 associated protein X-1 |
HCLSBP1, HS1BP1, SCN3 |
Curated: Bipolar disorder, Severe congenital neutropenia, Schizophrenia, Congenital neutropenia
Unreviewed: Ataxia telangiectasia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Central nervous system disease, Cognition disorder, Colorectal Cancer, Colorectal neoplasm, Congenital Neutropenia, Craniosynostosis, Developmental Delay, Developmental disability, Epilepsy, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Gaucher Disease, Glioblastoma, Glioma, Growth retardation, developmental delay, coarse facies, and early death, Head and neck neoplasm, Hematological Disease, Hemophagocytic lymphohistiocytosis, Hemorrhage, Hepatocellular carcinoma, Hypersensitivity, Hypopharyngeal Carcinoma, Intellectual developmental disorder, Kostmann Syndrome, Leukemia, Leukopenia, Lip and Oral Cavity Carcinoma, Liver carcinoma, Lung neoplasms, Lymphatic metastasis, Lymphedema, Lymphohistiocytosis, Malignant Neoplasm, Malignant neoplasm of mouth, Mantle Cell Lymphoma, Melanoma, Mesothelioma, Myelodysplasia, Myelodysplastic Syndrome, Nasopharyngeal carcinoma, Neoplasms, Nervous system disease, Nervous System Disorder, Neutropenia, Ovarian Failure, Periodontitis, Psoriasis, Psoriatic arthritis, Respiratory system infectious disease, Scleroderma, Sepsis, Squamous cell carcinoma, Stomatitis, Transient myeloproliferative disorder, Triple negative breast cancer, Tuberous sclerosis complex, Urinary bladder neoplasms, Wiskott-Aldrich Syndrome
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262
|
|
|
HAX1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
263
|
|
|
- |
alpha-LCR |
Curated: N/A
Unreviewed: N/A
|
264
|
|
|
Hemoglobin subunit alpha 1 |
ECYT7, HBA-T3, HBH, METHBA |
Curated: Alpha thalassemia, Anemia, Secondary polycythemia, Carcinoma, Ischemic stroke, Chloracne, Diabetes mellitus type 2, Erythrocytosis, Hemoglobin barts fetalis syndrome, Hemoglobin h disease, Hemoglobin m disease, Methemoglobinemia, Polycythemia, Polycythemia vera, Thalassemia, Unstable hemoglobin disease, methemoglobinemia, alpha type, erythrocytosis, familial, 7, HBA1-related alpha thalassemia spectrum
Unreviewed: alpha Thalassemia, alpha-Thalassemia Mental Retardation Syndrome, Alpha-thalassemia myelodysplasia syndrome, Alzheimer disease, Anaplastic Carcinoma, Asthma, beta Thalassemia, Bipolar Disorder, Brain Infarction, Brain ischemia, Brain Neoplasms, Carcinogenesis, Cardiomegaly, Cardiovascular Diseases, Cerebral Infarction, Cholecystolithiasis, Cholelithiasis, Clubfoot, Congenital Clubfoot, Congenital Epicanthus, Congenital Pectus Carinatum, Congestive Heart Failure, Contiguous gene syndrome, Creutzfeldt-Jakob disease, Cryptorchidism, Cystic Fibrosis, Deficiency Of Glucose-6-Phosphate Dehydrogenase, Delta-Beta Thalassemia, Delta-Thalassemia, Diabetes, Diabetes Mellitus, Diabetic angiopathies, Dilated cardiomyopathy, Dwarfism, Erythroblastic Leukemia, Erythroid hyperplasia, Fabry disease, Fatty Liver, Fatty liver, alcoholic, Frontal bossing, Gastrointestinal Neoplasms, Glycogen storage disease, Heart disease, Heart failure, Hematological Disease, Hemoglobin Barts hydrops, Hemoglobin Bart`s Hydrops Syndrome, Hemoglobin c disease, Hemoglobin E Disease, Hemoglobin H Disease, HEMOGLOBIN H HYDROPS FETALIS SYNDROME, Hemoglobin M Disease, Hemoglobinopathy, Hemolysis, Hemolytic anemia, Hepatocellular carcinoma, High palate, Hydrocephalus, Hydrops Fetalis, Hyperbilirubinemia, Hypercholesterolemia, Hyperglycemia, Hypertension, Hypochromic anemia, Hypochromic microcytic anemia, Hypospadias, Iron deficiency anemia, Iron Overload, Kidney Disease, Left ventricular disease, Leukemia, Melorheostosis, Mental retardation, Metabolic Syndrome, Microcephaly, Micrognathism, Miscarriage, Myelodysplastic Syndrome, Myeloid Leukemia, Myeloproliferative disorder, Myocardial infarction, Myocardial Ischemia, NONDELETIONAL HEMOGLOBIN H DISEASE, Osteopenia, Osteoporosis, Pericarditis, Polycystic kidney disease, Polycythemia Vera, Prostatic Neoplasms, Pulmonary hypertension, Renal Glomerular Disease, Retinal Diseases, Rubinstein-Taybi Syndrome, Sickle cell anemia, Sjogren`s Syndrome, Speech Disorders, Stomach neoplasms, Stroke, Sweet Syndrome, Synovial sarcoma, Tuberous Sclerosis, Uterine neoplasm, Vascular disease, Vascular Diseases, Vascular system injury
|
265
|
|
|
Hemoglobin subunit alpha 2 |
ECYT7, HBA-T2, HBH |
Curated: Alpha thalassemia, Anemia, Secondary polycythemia, Beta thalassemia, Chloracne, Erythrocytosis, Hemoglobin barts fetalis syndrome, Hemoglobin h disease, Hemoglobin m disease, Non-immune hydrops fetalis, Methemoglobinemia, Thalassemia, Unstable hemoglobin disease, methemoglobinemia, alpha type, erythrocytosis, familial, 7, HBA2-related alpha thalassemia spectrum
Unreviewed: alpha Thalassemia, alpha-Thalassemia Mental Retardation Syndrome, Alpha-thalassemia myelodysplasia syndrome, Aplastic anemia, beta Thalassemia, Bipolar Disorder, Brain ischemia, Brain Neoplasms, Cholecystolithiasis, Cholelithiasis, Congenital Clubfoot, Congenital Epicanthus, Congenital Pectus Carinatum, Congestive Heart Failure, Contiguous gene syndrome, Cooley`s Anemia, Coronary Arteriosclerosis, Creutzfeldt-Jakob disease, Cryptorchidism, Cystic Fibrosis, Deficiency Of Glucose-6-Phosphate Dehydrogenase, Delta-Beta Thalassemia, Delta-Thalassemia, Diabetes Mellitus, Dilated cardiomyopathy, Dwarfism, Edema, Erythroblastic Leukemia, Erythroid hyperplasia, Fabry disease, Frontal bossing, Gastrointestinal Neoplasms, Glycogen storage disease, Gm1 gangliosidosis, Growth disorder, Heart disease, Hematological Disease, Hemoglobin Barts hydrops, Hemoglobin c disease, Hemoglobin E Disease, Hemoglobin H Disease, HEMOGLOBIN H HYDROPS FETALIS SYNDROME, Hemoglobin M Disease, Hemoglobin sc disease, Hemoglobinopathy, Hemolysis, Hemolytic anemia, Hemolytic uremic syndrome, Hemophilia b, High palate, Hydrocephalus, Hydrops Fetalis, Hyperemia, Hypertension, Hypochromic anemia, Hypochromic microcytic anemia, Hypospadias, Hypoxia, Iron deficiency anemia, Iron Overload, Kidney failure, Leukemia, Major depressive disorder, Malnutrition, Melorheostosis, Mental retardation, Microcephaly, Micrognathism, Miscarriage, Mucolipidosis, Multiple sclerosis, Myelodysplastic Syndrome, Myeloid Leukemia, Myeloproliferative disorder, Myocardial infarction, Myocardial Ischemia, NONDELETIONAL HEMOGLOBIN H DISEASE, Nonorganic Psychosis, Osteochondrodysplasias, Osteopenia, Pericarditis, Polycystic kidney disease, Polycythemia, Psychosis, Pulmonary hypertension, Renal Glomerular Disease, Retinal Diseases, Rubinstein-Taybi Syndrome, Sickle cell anemia, Sjogren`s Syndrome, Speech Disorders, Stroke, Sweet Syndrome, Synovial sarcoma, Thrombosis, Tuberous Sclerosis, Uterine neoplasm, Vascular disease, Vascular Diseases
|
266
|
|
|
Hemoglobin subunit alpha pseudogene 1 |
HBA-T1, HBA-T1ps, HBA3, HBA3P |
Curated: N/A
Unreviewed: Thalassemia
|
267
|
|
|
Hemoglobin subunit beta |
CD113t-C, ECYT6, beta-globin |
Curated: Anemia, Hemolytic anemia, Sickle cell anemia, Hemolytic uremic syndrome, Secondary polycythemia, Beta thalassemia, Bladder calculus, Cardiomyopathy, Chloracne, Kidney disease, Cooleys anemia, Cyanosis, Delta-beta thalassemia, Diabetic neuropathy, Dominant beta-thalassemia, Erythrocytosis, Hereditary hemolytic anemia, Gout, Heart disease, Hemoglobin c disease, Hemoglobin c beta thalassemia, Hemoglobin d disease, Hemoglobin e disease, Hemoglobin e beta thalassemia, Hemoglobin f disease, Hemoglobin m disease, Hemoglobin sc disease, Hemoglobin sd disease, Hemoglobin se disease, Hemoglobinopathy, Hypertensive nephropathy, Kidney failure, Lepore-beta-thalassemia syndrome, Methemoglobinemia, Polycythemia, Polycythemia vera, Splenomegaly, Thalassemia, Thalassemia intermedia, Hemoglobin c-thalassemia disease, Diabetic nephropathy type 2, Unstable hemoglobin disease, Urolithiasis, beta-thalassemia HBB/LCRB, obsolete sickle cell disease and related diseases, erythrocytosis, familial, 6
Unreviewed: Achromatopsia, alpha Thalassemia, Alzheimer disease, Anaplastic thyroid cancer, Aneuploidy, Anxiety Disorder, Aortic aneurysm, Aphthous stomatitis, Arterial occlusive disease, Asthma, Behcet Syndrome, beta Thalassemia, Bladder Neoplasm, Brain ischemia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Carney complex, Cataract, Cholecystolithiasis, Cholelithiasis, Cholestasis, Chronic obstructive pulmonary disease, Cirrhosis, Clubfoot, Colorectal neoplasm, Complement component deficiency, Congenital Methemoglobinemia, Cooley`s Anemia, Critical illness, Crohn Disease, Cystic Fibrosis, Dacryocystitis, Delta-Beta Thalassemia, Delta-Thalassemia, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Dilated cardiomyopathy, Distal myopathy, Drachtman Weinblatt Sitarz syndrome, Dyskinesia, Endocrine system disease, Epithelial ovarian carcinoma, Erythroblastic Leukemia, Fatty liver, alcoholic, Frontal bossing, Glaucoma, Glycogen storage disease, Growth disorder, Heart failure, Hematological Disease, Hemoglobin C Disease, Hemoglobin C-Beta-Thalassemia Syndrome, Hemoglobin D Disease, Hemoglobin E Disease, Hemoglobin E-Beta-Thalassemia Syndrome, Hemoglobin H Disease, Hemoglobin Lepore-Beta-Thalassemia Syndrome, Hemoglobin M Disease, HEMOGLOBIN M METHEMOGLOBINEMIA, Hemolysis, Hepatitis c, Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome, Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome, Hodgkin Disease, Hodgkin Lymphoma, Hyperbilirubinemia, Hyperglycemia, Hyperplasia, Hypersensitivity, Hypersplenism, Hypertension, Hypochromic microcytic anemia, Hypogonadism, Hypoparathyroidism, Hypothyroidism, Idiopathic pulmonary fibrosis, Immunologic Deficiency Syndromes, Intravascular Hemolysis, Iron deficiency anemia, Iron Overload, Left ventricular disease, Lip and Oral Cavity Carcinoma, Liver cirrhosis, Liver disease, Liver Fibrosis, Liver neoplasms, Lung disease, Lymphoma, Macrocytic anemia, Malabsorption Syndrome, Malignant Neoplasm, Malignant neoplasm of mouth, Malnutrition, Melorheostosis, Mental Depression, Mucolipidosis, Multiple Sclerosis, Myelodysplastic syndrome, Myeloid leukemia, Myocardial infarction, Myocardial ischemia, Nasopharyngeal Carcinoma, Neoplasms, Nephroblastoma, Neuroblastoma, Neurodegenerative Disorders, Neutropenia, Non-Hodgkin lymphoma, Nyctalopia, Obesity, Open angle glaucoma, Osteochondrodysplasia, Osteomyelitis, Osteoporosis, Ovarian neoplasm, Papillary thyroid cancer, Papillary thyroid carcinoma, Periodontal Diseases, Periodontitis, Phenylketonuria, Polycystic kidney disease, Polycythemia Vera, Priapism, Prostatic neoplasm, Pseudohyperkalemia Cardiff, Pseudoxanthoma elasticum, Pulmonary arterial hypertension, Renal Carnitine Transport Defect, Renal cell carcinoma, Renal Glomerular Disease, Renal Insufficiency, Retinal Diseases, Seizures, Sickle Cell Anemia, Sickle Cell-Beta-Thalassemia Disease, Sickle Cell-Hemoglobin Disease, Sickle Cell-Hemoglobin O Arab Disease, Sjogren`s Syndrome, Skeletal Dysplasia, Spherocytosis, Spondylocarpotarsal Synostosis Syndrome, Stomach neoplasms, Stroke, Sweet Syndrome, Synovial sarcoma, Thoracic aortic aneurysm, Thrombocytosis, Thyroid cancer, Thyroid Neoplasm, Trichothiodystrophy, Turner syndrome, Uterine neoplasm
|
268
|
|
|
- |
3'HS1, HSVI |
Curated: N/A
Unreviewed: beta Thalassemia, Hemoglobinopathy
|
269
|
|
|
- |
HS-107 |
Curated: N/A
Unreviewed: N/A
|
270
|
|
|
- |
HS-110, HS-111 |
Curated: N/A
Unreviewed: beta Thalassemia
|