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2801
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Alanine--glyoxylate aminotransferase |
AGT, AGT1, AGXT1, PH1, SPAT, SPT, Ser-PyrAT, TLH6 |
Anemia, Atherosclerosis, Atrioventricular block, Calcinosis cutis, Cutis marmorata, Gangrene, Hyperoxaluria, Kidney disease, Nephrocalcinosis, Nephrolithiasis, Nephronophthisis, Nervous system diseases, Optic atrophy, Osteosclerosis, Peripheral arterial stenosis, Raynaud phenomenon, Renal insufficiency, Retinal diseases, StrokeView all (4 more) |
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2802
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Thymidine phosphorylase |
ECGF, ECGF1, MEDPS1, MNGIE, MTDPS1, PDECGF, TP, hPD-ECGF |
Anaplastic carcinoma, Anemia, Urinary bladder cancer, Bladder neoplasm, Carcinoma, Cirrhosis, Colonic neoplasms, Colorectal cancer, Colorectal neoplasms, Small intestinal dysmotility, Dementia, Demyelinating neuropathy, Distal amyotrophy, Dysphagia, Esophagus neoplasm, External ophthalmoplegia, Extraocular muscle paresis, Gastric cancer, Gastroesophageal reflux disease, Gastroparesis, Hearing loss, Hypogonadism, Hypogonadotropic hypogonadism, Intestinal perforation, Leukoencephalopathy, Malabsorption syndrome, Malnutrition, Mental retardation, Mitochondrial dna depletion syndrome, Mitochondrial myopathy, Mitochondrial neurogastrointestinal encephalomyopathy, Pancreatic neoplasm, Pancreatic cancer, Peripheral axonal neuropathy, Peripheral neuropathy, Progressive external ophthalmoplegia, Ptosis, Sensorimotor neuropathy, Stomach neoplasms, Visceral myopathyView all (25 more) |
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2803
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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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2804
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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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2805
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Epithelial cell transforming 2 |
ARHGEF31 |
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2806
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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) |
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2807
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ATP binding cassette subfamily A member 1 |
ABC-1, ABC1, CERP, HDLCQTL13, HDLDT1, HPALP1, TGD |
Allergic rhinitis, Alzheimer disease, Anemia, Apolipoprotein a1 deficiency, Atherosclerosis, Carotid artery stenosis, Cicatricial ectropion, Colorectal cancer, Colorectal neoplasms, Coronary arteriosclerosis, Coronary artery disease, Coronary heart disease, Coronary stenosis, Distal amyotrophy, Ectropion, Exudative macular degeneration, Geographic atrophy, Glucocorticoid deficiency, Gout, Gouty arthritis, Hemiplegia/hemiparesis, Hypercholesterolemia, Hyperlipoproteinemia, Hypoalphalipoproteinemia, Hypocholesterolemia, Kidney failure, Left ventricular hypertrophy, Age-related macular degeneration, Metabolic syndrome, Myocardial infarction, Nail diseases, Nail dysplasia, Nail dystrophy, Nervous system diseases, Peripheral axonal neuropathy, Schizophrenia, Syringomyelia, Tangier disease, Alphalipoproteinemia neuropathy, XanthomatosisView all (25 more) |
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2808
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Nuclear receptor subfamily 0 group B member 1 |
AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2 |
46, xx gonadal sex reversal, 46, xy complete gonadal dysgenesis, 46, xy partial gonadal dysgenesis, Adrenal hypoplasia, x-linked, Ambiguous genitalia, Azoospermia, Complex glycerol kinase deficiency, Congenital adrenal hypoplasia, x-linked, Congenital adrenal hypoplasia, Cryptorchidism, Gonadal dysgenesis, Gynecomastia, Hypertrophy of clitoris, Hypoadrenocorticism, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of vagina, Hypospadias, Male pseudohermaphroditism, Muscular dystrophy, Nephroblastoma, Nephrotic syndrome, Oligospermia, Osteoporosis, Ovarian gonadoblastoma, Penis agenesis, Physiologic amenorrhea, Polycystic ovary syndrome, Precocious puberty, Streak ovary, Testicular dysgenesis, Testicular gonadoblastoma, Testicular hypogonadism, Testicular regression syndrome, Xp21 contiguous gene deletion syndrome, Xx malesView all (21 more) |
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2809
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Sphingosine-1-phosphate receptor 1 |
CD363, CHEDG1, D1S3362, ECGF1, EDG-1, EDG1, S1P1 |
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2810
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Lysophosphatidic acid receptor 1 |
EDG2, Gpcr26, LPA1, Mrec1.3, VZG1, edg-2, rec.1.3, vzg-1 |
Breast cancer, Mammary neoplasms, Breast carcinoma, Cacosmia, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Leukemia, Marfan syndrome, Myeloid leukemia, Olfaction disorders, Prostatic neoplasms, Prostate cancer, Schizophrenia |