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3051
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EvC ciliary complex subunit 1 |
DWF-1, EVC1, EVCL |
Cubitus valgus, Acrofacial dysostosis, Alveolar ridge abnormality, Atrial septal defect, Brachydactyly, Camptodactyly of fingers, Ciliopathies, Congenital clubfoot, Congenital pectus carinatum, Cryptorchidism, Dandy-walker syndrome, Ectodermal dysplasia, Ellis-van creveld syndrome, Epispadias, Foot polydactyly, Fused incisors, Hypodontia, Hypospadias, Leukemia, Majewski syndrome, Mental retardation, Microdontia, Micrognathism, Micromelia, Microtia, Nail diseases, Nail dysplasia, Nail dystrophy, Peg-shaped teeth, Polydactyly, Polydactyly of toes, Situs inversus, Strabismus, Syndactyly of the toes, Thoracic hypoplasia, Postaxial hand polydactyly, Ventricular septal defect, Vertical talus, Weyers acrofacial dysostosisView all (24 more) |
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3052
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MDS1 and EVI1 complex locus |
AML1-EVI-1, EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3, RUSAT2 |
Amegakaryocytic thrombocytopenia, Anemia, Breast cancer, Breast carcinoma, Camptodactyly of fingers, Cardiovascular diseases, Colonic neoplasms, Congenital thrombocytopenia, Coronary heart disease, Glaucoma, Hearing loss, Leukemia, Lymphoid leukemia, Mammary neoplasms, Marfan syndrome, Monocytic leukemia, Myelodysplasia, Myelodysplastic syndrome, Myeloid leukemia, Myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), Myeloproliferative disorder, Nasopharyngeal cancer, Nasopharyngeal carcinoma, Nasopharyngeal neoplasms, Neutropenia, Osteoporosis, Ovarian cancer, Ovarian neoplasm, Pancytopenia, Prostate cancer, Prostate cancer, hereditary, Radioulnar synostosis, Radioulnar synostosis with amegakaryocytic thrombocytopenia, Syndactyly of fingers, Testicular hydroceleView all (20 more) |
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3053
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Ecotropic viral integration site 2A |
EVDA, EVI-2A, EVI2 |
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3054
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Albumin |
FDAHT, HSA, PRO0883, PRO0903, PRO1341 |
Azoospermia, Biliary cirrhosis, Bright disease, Cardiovascular diseases, Cerebral ischemia, Cholestasis, Cirrhosis, Congenital analbuminemia, Congestive heart failure, Diabetic cardiomyopathy, Diabetic nephropathy, Dysalbuminemic hyperthyroxinemia, Arthrochalasia ehlers-danlos syndrome, Epilepsy, Epileptic encephalopathy, Gastric cancer, Glomerulonephritis, Glomerulosclerosis, Heart diseases, Heart failure, Hemolytic uremic syndrome, Heymann nephritis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Hyperthyroxinemia, dysalbuminemic, Hypoalbuminemia, Hypoproteinemia, Kidney disease, Kidney failure, Lipodystrophy, Liver cirrhosis, Liver failure, Liver fibrosis, Lung adenocarcinoma, Melancholia, Membranous glomerulonephritis, Mental depression, Myocardial infarction, Myopathy, Nephritis, Nephrosis, Nephrotic syndrome, Obesity, Osteoporosis, Pancreatic diseases, Pancreatitis, Acute kidney insufficiency, Respiratory distress syndrome, Respiratory tract diseases, Rhinitis, Biliary cholangitis, Serum sickness, Stevens-johnson syndrome, Stomach neoplasms, Stroke, Urticaria, UveitisView all (43 more) |
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3055
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EWS RNA binding protein 1 |
EWS, EWS-FLI1 |
Amyotrophic lateral sclerosis, Anemia, Central nervous system neoplasms, Cerebral primitive neuroectodermal tumor, Desmoplastic tumor, Ependymoblastoma, Ewing sarcoma, Extra-osseous ewing`s sarcoma, Extraskeletal ewing sarcoma, Extraskeletal myxoid chondrosarcoma, Ileus, Lung neoplasms, Mediastinal lymphadenopathy, Medulloepithelioma, Melanoma, Neuroectodermal tumors, Ovarian neoplasm, Pancreatic neoplasm, Prostatic neoplasms, Prostate cancer, Sarcoma, Skeletal ewing sarcoma, Spongioblastoma, Testicular neoplasmsView all (9 more) |
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3056
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|
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Exostosin glycosyltransferase 1 |
EXT, LGCR, LGS, TRPS2, TTV |
Arthritis, Autism, Avascular necrosis of the capital femoral epiphysis, Brachydactyly, Cervical myelopathy, Chondrosarcoma, Cranial nerve paralysis, Dwarfism, Endometrial carcinoma, Hearing loss, Hemiplegia/hemiparesis, Langer-giedion syndrome, Legg-calve-perthes disease, Madelung deformity, Mental retardation, Microcephaly, Micromelia, Multiple congenital exostosis, Multiple osteochondromas, Osseous ankylosis, Osteosarcoma, Pelvic bone exostoses, Scapular exostoses, Scoliosis, Talipes, Trichorhinophalangeal dysplasia, Vesicoureteral refluxView all (12 more) |
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3057
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Exostosin glycosyltransferase 2 |
SOTV, SSMS |
11p11.2 deletion syndrome, Anemia, Arthritis, Autism, Brachycephaly, Breast carcinoma, Camptodactyly of fingers, Hereditary cancer syndrome, Cervical myelopathy, Chondrosarcoma, Colorectal cancer, Congenital epicanthus, Cranial nerve paralysis, Cryptorchidism, Defect of skull ossification, Developmental delay, Dwarfism, Gastroesophageal reflux disease, Hemiplegia/hemiparesis, Hypertension, Hypothyroidism, Macrocephaly, Madelung deformity, Mental retardation, Microcephaly, Micrognathism, Micromelia, Motor delay, Multiple congenital exostosis, Multiple exostoses, Multiple osteochondromas, Nail diseases, Nail dysplasia, Nephroblastoma, Nystagmus, Osseous ankylosis, Osteopenia, Osteosarcoma, Parietal foramina, Pelvic bone exostoses, Penis agenesis, Potocki-shaffer syndrome, Scapular exostoses, Scoliosis, Seizures, scoliosis, and macrocephaly syndrome, Stereotyped behavior, Strabismus, Ventricular septal defectView all (33 more) |
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3058
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Exostosin like glycosyltransferase 3 |
BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR |
Acquired kyphoscoliosis, Brachydactyly, Dislocated radial head, Congenital kyphoscoliosis, Developmental delay, Eosinophilia, Epiphyseal dysplasia, Immunoskeletal dysplasia with neurodevelopmental abnormalities, Leukemia, Lymphopenia, Mental retardation, Motor delay, Pyle metaphyseal dysplasia, Rhizomelia, Skeletal dysplasia, Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndromeView all (1 more) |
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3059
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EYA transcriptional coactivator and phosphatase 1 |
BOP, BOR, BOS1, OFC1, OTFCS |
Abnormal dermatoglyphic pattern, Anterior segment anomalies, Asymmetric crying face association, Bor syndrome, Branchioma, Branchiooculofacial syndrome, Branchiootic syndrome, Branchiootorenal syndrome, Cholesteatoma, Developmental dysplasia of the hip, Congenital heart defects, Congenital malrotation of intestine, Developmental delay, Dwarfism, Euthyroid goiter, Facial paralysis, Fistula of branchial cleft, Hearing loss, High palate, Hydronephrosis, Macrotia, Malrotation of kidney, Melnick-fraser syndrome, Mental retardation, Microdontia, Micrognathism, Microtia, Multicystic renal dysplasia, Otofaciocervical syndrome, Polycystic kidney disease, Renal agenesis, Renal dysplasia, Renal insufficiency, Renal steatosis, Speech disorders, Stenosis of external auditory canal, Vesicoureteral refluxView all (22 more) |
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3060
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EYA transcriptional coactivator and phosphatase 2 |
EAB1 |
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