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121
|
|
|
Hydroxyacylglutathione hydrolase |
GLO2, GLO2D, GLX2, GLXII, HAGH1 |
|
|
122
|
|
|
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
ECHA, GBP, HADH, LCEH, LCHAD, MLCL AT, MTPA, TP-ALPHA |
Arthritis, Cardiomyopathy, Cholestasis, Cholestatic liver disease, Chorioretinal atrophy, Congenital clubfoot, Congestive heart failure, Developmental delay, Disorder of skeletal muscle, Distal peripheral sensory neuropathy, Exotropia, Fatty liver, Hydrops fetalis, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoparathyroidism, Left ventricular hypertrophy, Liver failure, Long chain 3-hydroxyacyl-coa dehydrogenase deficiency, Mental retardation, Mitochondrial trifunctional protein deficiency, Motor delay, Multiple congenital anomalies, Myocardial ischemia, Myopathy, Myopia, Nervous system diseases, Nyctalopia, Osteoarthrosis deformans, Respiratory failure, Retinal diseases, Retinitis pigmentosa, Sensorimotor neuropathy, Staphyloma posticum, Tricuspid valve insufficiency, Trifunctional protein deficiencyView all (21 more) |
|
123
|
|
|
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
ECHB, MSTP029, MTPB, MTPD, MTPD2, TP-BETA |
Breast cancer, Mammary neoplasms, Breast carcinoma, Cardiomyopathy, Cholestasis, Congenital clubfoot, Congestive heart failure, Developmental delay, Disorder of skeletal muscle, Distal peripheral sensory neuropathy, Fatty liver, Heart diseases, Hydrops fetalis, Hypoparathyroidism, Left ventricular hypertrophy, Lipid metabolism disorders, Liver failure, Long chain 3-hydroxyacyl-coa dehydrogenase deficiency, Marfan syndrome, Mitochondrial trifunctional protein deficiency, Motor delay, Myopathy, Nervous system diseases, Respiratory failure, Retinitis pigmentosa, Sensorimotor neuropathy, Tricuspid valve insufficiency, Trifunctional protein deficiencyView all (13 more) |
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124
|
|
|
Hydroxyacyl-CoA dehydrogenase |
HAD, HADH1, HADHSC, HCDH, HHF4, MSCHAD, SCHAD |
3-hydroxyacyl-coa dehydrogenase deficiency, Cardiomyopathy, Hyperinsulinemic hypoglycemia, Fatty liver, Hyperinsulinism, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Liver failure, Mental retardation, Motor delay, Hypotonia, Nervous system diseases, Obesity, Retinitis pigmentosaView all (2 more) |
|
125
|
|
|
Histidine ammonia-lyase |
HIS, HSTD |
|
|
126
|
|
|
Histidyl-tRNA synthetase 1 |
CMT2W, HARS, HRS, USH3B |
Anxiety disorder, Astigmatism, Cataract, Cerebellar atrophy, Charcot-marie-tooth disease, Chromophobe carcinoma, Demyelinating neuropathy, Developmental delay, Disorder of eye, Hallucinations, Hearing loss, Hemianopsia, Horizontal nystagmus, Impaired cognition, Mental depression, Movement disorders, Nyctalopia, Papillary renal carcinoma, Prostate cancer, Renal carcinoma, Schizophrenia, Usher syndromeView all (7 more) |
|
127
|
|
|
Hyaluronan synthase 3 |
- |
|
|
128
|
|
|
Hemoglobin subunit alpha 1 |
ECYT7, HBA-T3, HBH, METHBA |
Alpha thalassemia, Alpha-thalassemia mental retardation syndrome, Anaplastic carcinoma, Anemia, Brain infarction, Carcinoma, Cerebral infarction, Congenital clubfoot, Congenital epicanthus, Congenital pectus carinatum, Congestive heart failure, Cryptorchidism, Diabetes mellitus, Dwarfism, Erythrocytosis, Frontal bossing, Hemoglobin barts hydrops, Hemoglobin bart`s hydrops syndrome, Hemoglobin h disease, Hemoglobin h hydrops fetalis syndrome, Hemoglobin m disease, Hemolytic anemia, High palate, Hydrocephalus, Hydrops fetalis, Hypospadias, Mental retardation, Methemoglobinemia, Microcephaly, Micrognathism, Nondeletional hemoglobin h disease, Pericarditis, Polycythemia, Polycythemia vera, Speech disordersView all (20 more) |
|
129
|
|
|
Hemoglobin subunit alpha 2 |
ECYT7, HBA-T2, HBH |
Alpha thalassemia, Alpha-thalassemia mental retardation syndrome, Anemia, Beta thalassemia, Congenital clubfoot, Congenital epicanthus, Congenital pectus carinatum, Congestive heart failure, Cooley`s anemia, Cryptorchidism, Dwarfism, Erythrocytosis, Frontal bossing, Hemoglobin barts hydrops, Hemoglobin h disease, Hemoglobin h hydrops fetalis syndrome, Hemoglobin m disease, Hemoglobinopathy, Hemolytic anemia, High palate, Hydrocephalus, Hydrops fetalis, Hypospadias, Mental retardation, Microcephaly, Micrognathism, Nondeletional hemoglobin h disease, Pericarditis, Speech disorders, ThalassemiaView all (15 more) |
|
130
|
|
|
Hemoglobin subunit beta |
CD113t-C, ECYT6, beta-globin |
Achromatopsia, Alpha thalassemia, Anemia, Anxiety disorder, Beta thalassemia, Cardiomyopathy, Cataract, Cholelithiasis, Cholestasis, Cirrhosis, Cooley`s anemia, Delta-beta thalassemia, Diabetes, Diabetes mellitus, Drachtman weinblatt sitarz syndrome, Erythrocytosis, Frontal bossing, Hemoglobin c disease, Hemoglobin c-beta-thalassemia syndrome, Hemoglobin d disease, Hemoglobin e disease, Hemoglobin e-beta-thalassemia syndrome, Hemoglobin lepore-beta-thalassemia syndrome, Hemoglobin m disease, Hemoglobin m methemoglobinemia, Hemoglobinopathy, Hemolytic anemia, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hyperbilirubinemia, Hypersplenism, Hypertension, Hypoparathyroidism, Hypothyroidism, Immunologic deficiency syndromes, Iron deficiency anemia, Liver neoplasms, Malabsorption syndrome, Mental depression, Methemoglobinemia, Neutropenia, Nyctalopia, Osteochondrodysplasia, Osteomyelitis, Osteoporosis, Polycythemia, Polycythemia vera, Priapism, Pulmonary arterial hypertension, Renal insufficiency, Retinal diseases, Sickle cell anemia, Sickle cell-beta-thalassemia disease, Sickle cell-hemoglobin disease, Sickle cell-hemoglobin o arab disease, Skeletal dysplasia, Stroke, Thalassemia, ThrombocytosisView all (44 more) |
