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3021
|
|
|
ERCC excision repair 3, TFIIH core complex helicase subunit |
BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB |
Age-related macular degeneration, Alopecia, Anemia, Arsenic encephalopathy, Arteriosclerosis, Astigmatism, Breast cancer, Bronchospasm, Carcinoma, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebral cortical atrophy, Congenital ankyloblepharon, Congenital epicanthus, Congenital exfoliative erythroderma, Congenital exomphalos, Congenital nonbullous ichthyosiform erythroderma, Conjunctival telangiectasis, Craniosynostosis, Cryptorchidism, Demyelinating neuropathy, Dental enamel hypoplasia, Developmental delay, Developmental regression, Dwarfism, Dysarthria, Ectropion, Eczema, Entropion, Esotropia, Eye neoplasms, Gonadal dysgenesis, Hearing loss, Hydrocephalus, Hyperkeratosis, Hypogonadism, Hypoplasia of mandible relative to maxilla, Ichthyosis, Impaired cognition, Impaired social reciprocity, Keratitis, Keratoconjunctivitis sicca, Melanocytic nevus, Melanoma, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Myopia, Neoplasms, Nervous system diseases, Neutropenia, Nystagmus, Optic atrophy, Osteopenia, Osteosclerosis, Papilloma, Paraplegia, Partial agenesis of corpus callosum, Periventricular leukomalacia, Poikiloderma, Pterygium, Retinal diseases, Retinitis pigmentosa, Seizure, Sensorineural hearing loss, Skin carcinoma, Strabismus, Trichothiodystrophy, Urticaria, Ventricular septal defect, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome complexView all (59 more) |
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3022
|
|
|
ERCC excision repair 4, endonuclease catalytic subunit |
ERCC11, FANCQ, RAD1, XFEPS, XPF |
Alopecia, Arsenic encephalopathy, Arteriosclerosis, Astigmatism, Atrial septal defect, Azoospermia, B-cell lymphoma, Biliary atresia, Urinary bladder cancer, Bladder neoplasm, Cafe-au-lait spot, Camptodactyly of fingers, Neoplasm, Carcinoma, Cataract, Cerebral cortical atrophy, Choanal atresia, Cockayne syndrome, Congenital ankyloblepharon, Congenital arteriovenous malformation, Congenital epicanthus, Congenital exomphalos, Conjunctival telangiectasis, Cranial nerve paralysis, Cryptorchidism, Demyelinating neuropathy, Dental enamel hypoplasia, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Dysarthria, Ectropion, Embryonal neoplasm, Entropion, Esophageal atresia, Eye neoplasms, Fanconi anemia, Frontal bossing, Tumor, Hearing loss, High palate, Hirschsprung disease, Hydrocephalus, Hyperkeratosis, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Hypospadias, Impaired cognition, Imperforate anus, Keratitis, Leukemia, Leukopenia, Malignant neoplasm of testis, Meckel diverticulum, Melanocytic nevus, Melanoma, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Miller dieker syndrome, Monocytic leukemia, Myelodysplasia, Myelodysplastic syndrome, Nervous system diseases, Nystagmus, Optic atrophy, Ovarian neoplasm, Ovarian cancer, Ovarian carcinoma, Papilloma, Patent ductus arteriosus, Pituitary dwarfism, Poikiloderma, Proptosis, Pterygium, Ptosis, Renal insufficiency, Tumor of rete testis, Retinal diseases, Scoliosis, Seborrheic keratosis, Skin carcinoma, Spina bifida, Strabismus, Syndactyly of fingers, Syndactyly of the toes, Testicular neoplasms, Tetralogy of fallot, Thumb aplasia, Urticaria, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome complex, Xfe progeroid syndromeView all (81 more) |
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3023
|
|
|
ERCC excision repair 5, endonuclease |
COFS3, ERCC5-201, ERCM2, UVDR, XPG, XPGC |
Alopecia, Arteriosclerosis, Arthrogryposis multiplex congenita, Carcinoma, Cataract, Cerebellar atrophy, Cerebral cortical atrophy, Cerebrooculofacioskeletal syndrome, Cofs syndrome, Congenital ankyloblepharon, Congenital clubfoot, Congenital pectus excavatum, Congenital pes cavus, Conjunctival telangiectasis, Cryptorchidism, Demyelinating neuropathy, Developmental delay, Developmental regression, Dwarfism, Dysarthria, Ectropion, Entropion, Eye neoplasms, Hearing loss, Hydrocephalus, Hyperkeratosis, Hypogonadism, Impaired cognition, Keratitis, Melanocytic nevus, Melanoma, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Nervous system diseases, Nystagmus, Optic atrophy, Papilloma, Pena shokeir syndrome, Poikiloderma, Polyneuropathy, Pterygium, Retinal diseases, Skin carcinoma, Spastic paraplegia, Strabismus, Talipes, Urticaria, Vertical talus, Xeroderma pigmentosum, Xeroderma pigmentosum-cockayne syndrome complexView all (37 more) |
|
3024
|
|
|
ERCC excision repair 6, chromatin remodeling factor |
ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1 |
Acquired kyphoscoliosis, Age-related macular degeneration, Agenesis of corpus callosum, Anhidrosis, Arthrogryposis multiplex congenita, Blepharophimosis, Breast cancer, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Cerebrooculofacioskeletal syndrome, Choreoathetosis, Cockayne syndrome, Cofs syndrome, Colorectal cancer, Congenital camptodactyly, Congenital kyphoscoliosis, Congenital microcephaly, Conjunctivitis, Cryptorchidism, De sanctis-cacchione syndrome, Dwarfism, Dysmorphic features, Ectropion, Elbow flexion contracture, Entropion, Gonadal hypoplasia, Hearing loss, Hydrocephalus, Hyperopia, Hypertension, Hypogonadism, Hypoplasia of iris, Hypoplasia of teeth, Keratitis, Lung adenocarcinoma, Lung cancer, Lung carcinoma, Lung neoplasms, Malocclusion, Melanoma, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microlissencephaly, Microphthalmos, Movement disorders, Neoplasms, Nervous system diseases, Nystagmus, Olivopontocerebellar atrophies, Optic atrophy, Osteoporosis, Ovarian cancer, Ovarian carcinoma, Ovarian failure, Ovarian neoplasm, Penis agenesis, Poikiloderma, Polyneuropathy, Premature aging, Premature ovarian failure, Psychomotor disorders, Renal insufficiency, Retinitis pigmentosa, Secondary physiologic amenorrhea, Strabismus, Talipes, Uv-sensitive syndrome, Vertical talusView all (58 more) |
|
3025
|
|
|
ETS2 repressor factor |
CHYTS, CRS4, PE-2, PE2 |
Acanthosis nigricans, Acrocephaly, Anemia, Arnold-chiari malformation, Auditory processing disorder, Blepharophimosis, Brachycephaly, Brachydactyly, Bronchomalacia, Cerebellar hypoplasia, Chiari malformation, Chitayat syndrome, Choanal atresia, Congenital coloboma of iris, Congenital pectus excavatum, Conjunctivitis, Craniofacial dysostosis, Craniosynostosis, Crouzon disease, Dolichocephaly, Dwarfism, Dysmorphic features, Frontal bossing, Hearing loss, Hydrocephalus, Hypoplasia of the maxilla, Impaired cognition, Lambdoid synostosis, Language development disorders, Lung diseases, Melanocytic nevus, Mental retardation, Metopic synostosis, Optic atrophy, Osteochondrodysplasia, Plagiocephaly, Proptosis, Prostatic neoplasms, Prostate cancer, Ptosis, Scaphocephaly, Skeletal dysplasia, Speech delay, Strabismus, Syndactyly of fingers, Synostotic anterior plagiocephaly, Synostotic posterior plagiocephaly, Tracheomalacia, TrigonocephalyView all (34 more) |
|
3026
|
|
|
ETS transcription factor ERG |
LMPHM14, erg-3, p55 |
Aortic aneurysm, Autism, Ewing sarcoma, Extra-osseous ewing`s sarcoma, Extraskeletal ewing sarcoma, Knee osteoarthritis, Leukemia, Lymphoblastic leukemia, Multiple sclerosis, Myeloid leukemia, Osteoarthritis of hip, Prostatic neoplasms, Prostate cancer, Skeletal ewing sarcoma |
|
3027
|
|
|
AKT serine/threonine kinase 2 |
HIHGHH, PKBB, PKBBETA, PRKBB, RAC-BETA |
Acanthosis nigricans, Benign tumor of pancreas, Bipolar disorder, Breast adenocarcinoma, Breast cancer, Mammary neoplasms, Breast carcinoma, Colorectal neoplasms, Colorectal cancer, Congenital hemihypertrophy, Diabetes mellitus, Fatty liver, Gynecomastia, Hypertrophy of tonsils, Hypoglycemic coma, Hypoglycemic seizures, Hypoinsulinemic hypoglycemia and hemihypertrophy, Insulin-resistant diabetes mellitus, Leukemia, Lipodystrophy, Lung carcinoma, Malignant neoplasm, Marfan syndrome, Nasopharyngeal carcinoma, Hypoglycemia, Ovarian neoplasm, Ovarian cancer, Ovarian carcinoma, Pancreatic neoplasm, Pancreatic carcinoma, Pancreatic cancer, Partial lipodystrophy, Polycystic ovary syndromeView all (18 more) |
|
3028
|
|
|
Endoplasmic reticulum to nucleus signaling 1 |
IRE1, IRE1P, IRE1a, hIRE1p |
Ankylosing spondylitis, Cholangitis, Crohn disease, Epilepsy, Gastric cancer, Glioblastoma, Lung adenocarcinoma, Ovarian serous adenocarcinoma, Psoriasis, Renal carcinoma, Ulcerative colitis |
|
3029
|
|
|
Fibrillarin |
FIB, FLRN, Nop1, RNU3IP1 |
|
|
3030
|
|
|
Esterase D |
FGH |
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