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61
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|
|
Enoyl-CoA hydratase, short chain 1 |
ECHS1D, SCEH, mECH, mECH1 |
Anemia, Cerebellar ataxia, Developmental delay, Developmental regression, Dysarthria, Dysmorphic features, Encephalopathy, Gastric cancer, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Mental retardation, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Mitochondrial short-chain enoyl-coa hydratase 1 deficiency, Mood swings, Multiple congenital anomalies, Nervous system diseases, Nystagmus, Obesity, Optic atrophy, Ptosis, Retinitis pigmentosa, Stomach neoplasms, Strabismus, Ventricular septal defectView all (12 more) |
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62
|
|
|
Extracellular matrix protein 1 |
URBWD |
Acne, Dysphagia, Gastric cancer, Hallucinations, High palate, Hyperkeratosis, Lipoid proteinosis, Liver carcinoma, Microglossia, Miscarriage, Nasal polyposis, Paranoia, Stomach neoplasms, Ulcerative colitis |
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63
|
|
|
Epithelial cell transforming 2 |
ARHGEF31 |
|
|
64
|
|
|
Ectodysplasin A |
ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED |
Absent eyebrow, Anhidrosis, Anodontia, Colorectal cancer, Congenital absent nipple, Congenital hypotrichia, Diabetes mellitus, Ectodermal dysplasia, Eczema, Frontal bossing, Hypertension, Hypodontia, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, x-linked, Hypopituitarism, Hypoplasia of nipple, Hypoplasia of the maxilla, Hypotrichosis, Melanoma, Microdontia, Micrognathism, Oligodontia, Peg-shaped teeth, Rhinitis, Taurodontism, Tooth agenesis, x-linkedView all (12 more) |
|
65
|
|
|
Endothelin 1 |
ARCND3, ET1, HDLCQ7, PPET1, QME |
Alveolitis, Asthma, Atrial fibrillation, Auriculocondylar syndrome, Cerebral infraction, Cardiomyopathy, Cardiovascular abnormalities, Cardiovascular diseases, Cartilage diseases, Cerebral thrombosis, Cerebrovascular disorders, Cerebrovascular insufficiency, Cerebrovascular occlusion, Chondromalacia, Colonic neoplasms, Colorectal cancer, Colorectal neoplasms, Congenital heart defects, Congestive heart failure, Coronary artery disease, Developmental delay, Diabetes mellitus, Erectile dysfunction, Functional gastrointestinal disorders, Gastrointestinal diseases, Glomerular hyalinosis, Glomerulosclerosis, Glossoptosis, Heart failure, Hepatorenal syndrome, Hypercholesterolemia, Hypertension, Involutional depression, Involutional paraphrenia, Kidney disease, Kidney failure, Laryngeal cleft, Left ventricular hypertrophy, Lewy body disease, Macrocephaly, Marginal ulcer, Mental depression, Microglossia, Micrognathism, Microstomia, Myocardial diseases, Myocardial infarction, Myocardial ischemia, Nephrosis, Oral ulcer, Parkinson disease, Paroxysmal atrial fibrillation, Peptic ulcer, Periauricular skin pits, Psychosis, Ptosis, Pulmonary fibrosis, Acute kidney insufficiency, Renal insufficiency, Respiratory distress syndrome, Sleep apnea, Stroke, Subarachnoid hemorrhage, Vein of galen aneurysmView all (49 more) |
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66
|
|
|
Endothelin 3 |
ET-3, ET3, HSCR4, PPET3, WS4B |
Cardiovascular abnormalities, Colonic aganglionosis, Congenital central hypoventilation, Congenital intestinal aganglionosis, Dwarfism, Ganglioneuroblastoma, Ganglioneuroma, Haddad syndrome, Hearing loss, Hirschsprung disease, Hypertension, Impaired cognition, Intestinal obstruction, Intestinal polyposis, Lung diseases, Mental retardation, Mouth abnormalities, Ondine syndrome, Posteriorly rotated ear, Synophrys, Thyroid neoplasm, Waardenburg syndromeView all (7 more) |
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67
|
|
|
Endothelin receptor type A |
ET-A, ETA, ETA-R, ETAR, ETRA, MFDA, hET-AR |
Alopecia, Breast cancer, Common migraine, Congenital heart defects, Congestive heart failure, Diabetes mellitus, Erectile dysfunction, Hearing loss, Heart failure, Hypertension, Hypoplasia of the maxilla, Mandibulofacial dysostosis, Mandibulofacial dysostosis with alopecia, Micrognathism, Microtia, Migraine with aura, Myocardial infarction, Narcolepsy, Nasopharyngeal neoplasms, Nasopharyngeal cancer, Ovarian neoplasm, Ovarian cancer, Sleep apnea, Stenosis of external auditory canal, Stroke, Trismus, Obstructive sleep apnea syndromeView all (12 more) |
|
68
|
|
|
Endothelin receptor type B |
ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR, HSCR2, WS4A |
Abcd syndrome, Albinism, Anomalous pulmonary artery, Breast cancer, Mammary neoplasms, Breast carcinoma, Colonic aganglionosis, Congenital intestinal aganglionosis, Congestive heart failure, Developmental delay, Diabetes mellitus, Dwarfism, Hearing loss, Heart failure, Hirschsprung disease, Intestinal obstruction, Intestinal polyposis, Iron deficiency anemia, Leukodystrophy, Malnutrition, Marfan syndrome, Mental retardation, Multicystic renal dysplasia, Myocardial infarction, Nephrosis, Nystagmus, Polyneuropathy, Ptosis, Subarachnoid hemorrhage, Synophrys, Thyroid neoplasm, Total intestinal aganglionosis, Waardenburg syndromeView all (18 more) |
|
69
|
|
|
Eukaryotic translation elongation factor 1 alpha 1 |
CCS-3, CCS3, EE1A1, EEF-1, EEF1A, EF-Tu, EF1A, EF1A1, EF1alpha1, GRAF-1EF, LENG7, PTI1, eEF1A-1 |
|
|
70
|
|
|
Eukaryotic translation elongation factor 1 alpha 2 |
DEE33, EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL |
Attention deficit hyperactivity disorder, Autism, Cerebral atrophy, Congenital epicanthus, Developmental delay, Developmental regression, Dwarfism, Dyskinetic syndrome, Epilepsy, Epileptic encephalopathy, Gastric cancer, Gastroesophageal reflux disease, Hypodontia, Mental retardation, Microcephaly, Hypotonia, Neurodevelopmental disorders, Neurogenic urinary bladder, Non-specifi epileptic encephalopathy, Non-syndromic intellectual disability, Nystagmus, Optic atrophy, Ptosis, Status epilepticus, Stomach neoplasms, Vesicoureteral refluxView all (11 more) |
