|
3181
|
|
|
Synaptonemal complex protein 2 like |
C6orf177, NO145, POF24, dJ62D2.1 |
|
|
3182
|
|
|
PX domain containing 1 |
C6orf145 |
|
|
3183
|
|
|
Serpin family B member 9 pseudogene 1 |
SERPINB9P |
|
|
3184
|
|
|
Zinc finger and SCAN domain containing 25 |
ZNF498 |
|
|
3185
|
|
|
Fukutin |
CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4 |
Absence of septum pellucidum, Acquired kyphoscoliosis, Agenesis of corpus callosum, Agyria, Alpha-dystroglycanopathy, Amyotrophy, Anterior segment dysgenesis, Atrial septal defect, Brachycephaly, Breast cancer, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cobblestone lissencephaly, Congenital cerebral hernia, Congenital coloboma of iris, Congenital contracture, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital kyphoscoliosis, Congenital meningocele, Congenital muscular dystrophy, Congenital muscular dystrophy without intellectual disability, Congenital ocular coloboma, Congenital pectus excavatum, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Dilated cardiomyopathy, Dolichocephaly, Fukuyama type congenital muscular dystrophy, Glaucoma, Glaucoma, congenital, Hearing loss, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hyperopia, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Hypotonia, Impaired cognition, Imperforate anus, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, Lipoatrophy, Lipodystrophy, Macrocephaly, Meningoencephalocele, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Microtia, Motor delay, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myopathy, Myopia, Neuronal heterotopia, Occipital encephalocele, Optic atrophy, Pachygyria, Palmoplantar keratoderma, Plagiocephaly, Polymicrogyria, Posteriorly rotated ear, Pulmonary stenosis, Renal dysplasia, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Specific learning disorder, Speech disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Transposition of great vessels, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (69 more) |
|
3186
|
|
|
Sp8 transcription factor |
BTD |
|
|
3187
|
|
|
JAZF zinc finger 1 |
TIP27, ZNF802 |
Allergic rhinitis, Ankylosing spondylitis, Arthritis, Asthma, Cholangitis, Coronary heart disease, Crohn disease, Diabetes mellitus, Eczema, Endometrial neoplasms, Endometrial carcinoma, Endometrial stromal sarcoma, Eosinophilia, Esophagus neoplasm, Gout, Gouty arthritis, Lupus erythematosus, Moyamoya disease, Multiple sclerosis, Nonbacterial verrucal endocardiosis, Oligoarticular arthritis, Ovarian neoplasm, Pauciarticular chronic arthritis, Seronegative polyarthritis, Prostatic neoplasms, Prostate cancer, Psoriasis, Respiratory tract diseases, Rheumatoid arthritis, Scleroderma, Still disease, Systemic lupus erythematosus, Ulcerative colitisView all (18 more) |
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3188
|
|
|
Ficolin 1 |
FCNM |
|
|
3189
|
|
|
Glypican 2 |
- |
|
|
3190
|
|
|
BRCA1 associated ATM activator 1 |
BAAT1, C7orf27, NEDCAS, RMFSL |
Camptodactyly of fingers, Cerebellar atrophy, Congenital epicanthus, Developmental delay, Dysautonomia, Dysmorphic features, High palate, Hypoplasia of corpus callosum, Lethal spasticity-epileptic encephalopathy syndrome, Mental retardation, Microcephaly, Myoclonic seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Nystagmus, Rigidity and multifocal seizure syndrome |
