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181
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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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182
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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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183
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|
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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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184
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|
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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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185
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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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186
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|
|
EYA transcriptional coactivator and phosphatase 2 |
EAB1 |
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187
|
|
|
Enhancer of zeste 2 polycomb repressive complex 2 subunit |
ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS, WVS2 |
Absence of septum pellucidum, Acrocephaly, B-cell lymphoma, Brachycephaly, Breast cancer, Mammary neoplasms, Breast carcinoma, Clinodactyly, Congenital camptodactyly, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Congenital hypoplasia of penis, Craniosynostosis, Cryptorchidism, Cutis laxa, Developmental delay, Diffuse lymphoma, Dysarthria, Dysmorphic features, Endometrial neoplasms, Endometrial carcinoma, Leukemia, megakaryoblastic, of down syndrome, Liver carcinoma, Lymphoma, Macrocephaly, Macrotia, Malocclusion, Marfan syndrome, Melanoma, Mental retardation, Metopic synostosis, Micrognathism, Myelodysplastic syndrome, Myelodysplastic-myeloproliferative diseases, Myelomonocytic leukemia, Osteosarcoma, Myelofibrosis, Prostatic neoplasms, Prostate cancer, Scaphocephaly, Scoliosis, Strabismus, Syndactyly of fingers, Synostotic anterior plagiocephaly, Synostotic posterior plagiocephaly, Talipes transversoplanus, Testicular hydrocele, Trigonocephaly, Congenital anomaly of upper limb, Weaver syndromeView all (36 more) |
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188
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Glutamate rich 6B |
FAM194B |
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189
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|
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EGF containing fibulin extracellular matrix protein 1 |
ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5 |
Adenocarcinoma, Anaplastic carcinoma, Biliary atresia, Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma, Carpal tunnel syndrome, Colorectal cancer, Colorectal neoplasms, Disorder of eye, Diverticular diseases, Doyne honeycomb retinal dystrophy, Drusen, Lung neoplasms, Lung cancer, Macular dystrophy, Malattia leventinese, Malignant mesothelioma, Marfan syndrome, Nyctalopia, Optic disk drusen, Pancreatic neoplasm, Pancreatic cancer, Reticular pigmentary degeneration, Retinal dystrophy, Venous insufficiencyView all (12 more) |
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190
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Endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
EIG121L, KIAA1324L |
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