|
691
|
|
|
Arachidonate epidermal lipoxygenase 3 |
ARCI3, E-LOX, LI5, eLOX-3, eLOX3 |
Alopecia, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Corneal erosion, Dwarfism, Ectropion, Exfoliative dermatitis, Gangrene, Harlequin ichthyosis, Hyperkeratosis, Hypohidrosis, Hypotrichosis, Ichthyosis, Ichthyosis congenita, Ichthyosis with hypotrichosis, Impaired cognition, Keratitis, Lamellar ichthyosis, Mental retardation, Otitis media, Palmoplantar keratoderma, Prostatic neoplasms, Prostate cancer, Renal insufficiency, Self-healing collodion babyView all (10 more) |
|
692
|
|
|
Actin beta |
BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1, THC8 |
Accessory nipple, Accessory rib, Achalasia, Acquired kyphoscoliosis, Agenesis of corpus callosum, Anaplastic carcinoma, Anencephaly, Aortic valve sclerosis, Aphasia, Arthritis, Baraitser-winter syndrome, Becker nevus syndrome, Bicuspid aortic valve, Bipolar disorder, Carcinoma, Cataract, Cerebral cortical hemiatrophy, Coloboma of optic disc, Congenital coloboma of iris, Congenital epicanthus, Congenital euryblepharon, Rib fusion, Congenital kyphoscoliosis, Congenital ocular coloboma, Congenital pectus carinatum, Congenital pectus excavatum, Cryptorchidism, Developmental delay, Developmental malformations-deafness-dystonia syndrome, Drachtman weinblatt sitarz syndrome, Dwarfism, Dysmorphic features, Dysostoses, Dysphagia, Dysphasia, Dystonia, Epidermal nevus, Esophagus neoplasm, Fundus coloboma, Hamartoma, Hearing loss, Hydronephrosis, Immunologic deficiency syndromes, Lipoatrophy, Lipodystrophy, Liver carcinoma, Lung neoplasms, Lung cancer, Macroglossia, Macrostomia, Mental retardation, Microcephaly, Microcornea, Micrognathism, Micromelia, Multiple congenital anomalies, Myocardial ischemia, Neck webbing, Oral cleft, Osteoarthrosis deformans, Osteochondrodysplasia, Osteochondrosis, Pachygyria, Patent ductus arteriosus, Penis agenesis, Platelet-type bleeding disorder, Polymicrogyria, Ptosis, Retinal coloboma, Retinoschisis, Schizophrenia, Scoliosis, Skeletal dysplasia, Specific learning disorder, Spina bifida occulta, Subcortical cerebral atrophy, Transient ischemic attack, Trigonocephaly, Uveoretinal colobomaView all (64 more) |
|
693
|
|
|
Actin filament associated protein 1 |
AFAP, AFAP-110, AFAP110 |
|
|
694
|
|
|
Arginine vasopressin induced 1 |
PP5395, VIP32, VIT32 |
|
|
695
|
|
|
AGBL carboxypeptidase 5 |
CCP5, RP75 |
Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Keratoconus, Mental retardation, Mixed astigmatism, Myopia, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Retinitis pigmentosaView all (1 more) |
|
696
|
|
|
ALX homeobox 4 |
CRS5, FND2 |
11p11.2 deletion syndrome, Acrocephaly, Agenesis of corpus callosum, Alopecia, Anemia, Aplasia cutis congenita, Brachycephaly, Cerebellar vermis agenesis, Congenital cerebral hernia, Congenital epicanthus, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Defect of skull ossification, Developmental delay, Dolichocephaly, Dysmorphic features, Enlarged parietal foramina, Frontal bossing, Frontonasal dysplasia, Frontonasal dysplasia-alopecia-genital anomalies syndrome, Gout, Gouty arthritis, Hypertension, Hypogonadism, Hypoplasia of corpus callosum, Hypothyroidism, Leukemia, Lung neoplasms, Lung cancer, Mental depression, Mental retardation, Metopic synostosis, Microcephaly, Micrognathism, Microphthalmos, Multiple congenital anomalies, Nephroblastoma, Nystagmus, Parietal foramina, Peg-shaped teeth, Penis agenesis, Polydactyly, Potocki-shaffer syndrome, Scaphocephaly, Strabismus, Synostotic anterior plagiocephaly, Synostotic posterior plagiocephaly, TrigonocephalyView all (34 more) |
|
697
|
|
|
ATP binding cassette subfamily E member 1 |
ABC38, OABP, RLI, RLI1, RNASEL1, RNASELI, RNS4I |
|
|
698
|
|
|
Autophagy related 101 |
C12orf44 |
|
|
699
|
|
|
Acyl-CoA synthetase medium chain family member 3 |
SA, SAH |
|
|
700
|
|
|
Ataxin 1 |
ATX1, D6S504E, SCA1 |
Spinocerebellar ataxia, Atrial fibrillation, Brainstem atrophy, Breast carcinoma, Bulbar palsy, Cerebellar ataxia, Cerebellar atrophy, Degenerative diseases, central nervous system, Diabetes mellitus, Distal amyotrophy, Dysarthria, Dysphagia, Impaired cognition, Lupus erythematosus, Mental depression, Neurodegenerative disorders, Nystagmus, Olivopontocerebellar atrophies, Optic atrophy, Paroxysmal atrial fibrillation, Respiratory failure, Retinal diseases, Schizophrenia, Spinocerebellar degeneration, Supranuclear ophthalmoplegia, Upgaze palsyView all (11 more) |
