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3661
|
|
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Dishevelled associated activator of morphogenesis 2 |
NPHS24, dJ90A20A.1 |
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3662
|
|
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Zinc finger FYVE-type containing 26 |
FYVE-CENT, SPG15 |
Amyotrophic lateral sclerosis, Bowel incontinence, Breast cancer, Demyelinating neuropathy, Diabetes mellitus, Distal amyotrophy, Dysarthria, Frontotemporal dementia, Hypoplasia of corpus callosum, Lateral sclerosis, Leber congenital amaurosis, Age-related macular degeneration, Mental retardation, Mood swings, Movement disorders, Nystagmus, Peripheral axonal neuropathy, Pseudobulbar palsy, Psychosis, Retinal dystrophy, Retinitis pigmentosa, Spastic paraplegia, Specific learning disorder, Spondylometaphyseal dysplasiaView all (9 more) |
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3663
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RIMS binding protein 2 |
PPP1R133, RBP2, RIM-BP2 |
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3664
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Transmembrane protein 131 |
CC28, PRO1048, RW1, YR-23 |
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3665
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|
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Protein O-fucosyltransferase 1 |
DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1 |
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3666
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|
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SUZ12 polycomb repressive complex 2 subunit |
CHET9, IMMAS, JJAZ1 |
Adenoma, Congenital clubfoot, Congenital hypoplasia of penis, Cryptorchidism, Developmental delay, Endometrial neoplasms, Endometrial carcinoma, Endometrial stromal sarcoma, Giant cell glioblastoma, Glioblastoma, Glioma, Macrocephaly, Macrotia, Malignant neoplasm, Melanocytic nevus, Melanoma, Mental retardation, Micrognathism, Nerve sheath tumors, Neurilemmoma, Neurofibroma, Peripheral nerve sheath neoplasm, Papillary adenoma, Perineurioma, Schwannomatosis, Scoliosis, Syndactyly of fingers, Talipes transversoplanus, Urogenital abnormalities, Weaver syndromeView all (15 more) |
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3667
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|
|
Scaffold protein involved in DNA repair |
KIAA0146, ODG9 |
46, xx gonadal dysgenesis, 46,xx gonadal dysgenesis, Arachnodactyly, Dwarfism, Gonadal dysgenesis, Microcephaly, Osteopenia, Osteoporosis of vertebrae, Physiologic amenorrhea, Premature menopause, Pulmonary fibrosis, Secondary physiologic amenorrhea, Streak ovary |
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3668
|
|
|
Solute carrier family 39 member 14 |
HCIN, HMNDYT2, LZT-Hs4, NET34, ZIP14, cig19 |
Cerebellar atrophy, Cerebral atrophy, Developmental delay, Developmental regression, Dyskinetic syndrome, Dystonia-parkinsonism-hypermanganesemia syndrome, Facial paralysis, Hearing loss, Hypermanganesemia with dystonia, Mental retardation, Optic atrophy, Parkinson disease, Scoliosis |
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3669
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|
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Ribosomal protein L13a |
L13A, TSTA1, uL13 |
|
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3670
|
|
|
Lysine acetyltransferase 6B |
GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf |
Abnormal dermatoglyphic pattern, Agenesis of corpus callosum, Arthritis, Arthrogryposis multiplex congenita, Atrial septal defect, Bipolar disorder, Blepharophimosis, Blepharophimosis-mental retardation syndrome, Brachydactyly, Breast cancer, Camptodactyly of fingers, Cardiomyopathy, Colpocephaly, Congenital clubfoot, Developmental dysplasia of the hip, Congenital epicanthus, Pulmonary hypoplasia, Congenital pectus carinatum, Congenital pectus excavatum, Cryptorchidism, Developmental delay, Dwarfism, Dysarthria, Dysphagia, Gastroesophageal reflux disease, Genitopatellar syndrome, Hearing loss, High palate, Hip contracture, Hydronephrosis, Hypertrophy of clitoris, Hypogonadotropic hypogonadism, Hypoplasia of the maxilla, Hypothyroidism, Mental retardation, Juvenile arthritis, Kbg syndrome, Laryngomalacia, Cystic hygroma, Melanocytic nevus, Microcephaly, Microdontia, Micrognathism, Motor delay, Multicystic renal dysplasia, Multiple congenital anomalies, Neck webbing, Noonan syndrome, Nystagmus, Patent ductus arteriosus, Penis agenesis, Periventricular nodular heterotopia, Seronegative polyarthritis, Polyarthritis, rheumatoid factor positive, Posteriorly rotated ear, Proptosis, Ptosis, Radioulnar synostosis, Renal hypoplasia, Scoliosis, Specific learning disorder, Still disease, Strabismus, Submucosal cleft palate, Thyroid agenesis, Thyroid hypoplasia, Tongue neoplasms, Ventricular septal defect, Vesicoureteral refluxView all (54 more) |
