|
811
|
|
|
Mitochondrial calcium uptake 1 |
CALC, CBARA1, EFHA3, MPXPS, ara CALC |
Basal ganglia diseases, Developmental delay, Extrapyramidal disease, Learning disorders, Lenticulostriate disorders, Orofacial dyskinesia, Microcephaly, Motor delay, Movement disorders, Myopathy, Myopathy with extrapyramidal signs, Optic atrophy, Peripheral axonal neuropathy, Proximal myopathy with extrapyramidal signs, Ptosis, Specific learning disorder, Status marmoratusView all (2 more) |
|
812
|
|
|
Calcium voltage-gated channel auxiliary subunit gamma 2 |
MRD10 |
|
|
813
|
|
|
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
ASD8, MRG-1, MRG1, P35SRJ, VSD2 |
Atrial septal defect, Benign neoplasm, Brachydactyly, Camptodactyly of fingers, Cryptorchidism, Dolichocephaly, Heart septal defects, Malignant neoplasm, Neoplasms, Proptosis, Pulmonary venous return anomaly, Secundum atrial septal defect, Sinus venosus atrial septal defect, Situs inversus, Tetralogy of fallot, Ventricular septal defectView all (1 more) |
|
814
|
|
|
Semaphorin 3A |
COLL1, HH16, Hsema-I, Hsema-III, SEMA1, SEMAD, SEMAIII, SEMAL, SemD, coll-1 |
Azoospermia, Breast cancer, Breast hypoplasia, Brugada syndrome, Cryptorchidism, Dysarthria, Gynecomastia, Hearing loss, Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism with or without anosmia, Hypopituitarism, Ichthyosis, Kallmann syndrome, Mental depression, Mirror movements, Nystagmus, Obesity, Osteochondrodysplasia, Paraplegia, Penis agenesis, Physiologic amenorrhea, Ptosis, Renal agenesis, Schizophrenia, Skeletal dysplasiaView all (10 more) |
|
815
|
|
|
CCND2 antisense RNA 1 |
CCND2-AS2 |
|
|
816
|
|
|
FOXC2 antisense RNA 1 |
ODRUL |
|
|
817
|
|
|
Tubulin alpha 1b |
K-ALPHA-1 |
|
|
818
|
|
|
Tubulin beta 3 class III |
CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4 |
Cubitus valgus, Acquired kyphoscoliosis, Agenesis of corpus callosum, Breast cancer, Mammary neoplasms, Breast carcinoma, Cerebellar hypoplasia, Cobblestone lissencephaly, Congenital epicanthus, Congenital fibrosis of extraocular muscles, Congenital kyphoscoliosis, Congenital microcephaly, Cortical dysgenesis with pontocerebellar hypoplasia, Cortical dysplasia, Cortical dysplasia with other brain malformations, Developmental delay, Dysarthria, Dysautonomia, Dysgenesis of the hippocampus, Esotropia, Exotropia, Fibrosis of extraocular muscles, Focal seizures, High palate, Hydrocephalus, Hypoplasia of corpus callosum, Hypoplasia of the olfactory bulb, Hypoplasia of the optic nerve, Lissencephaly, Spastic diplegia, Macrocephaly, Malformation of cortical development, Marfan syndrome, Mental retardation, Microcephaly, Micrognathism, Mood swings, Multiple congenital anomalies, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Ovarian neoplasm, Ovarian cancer, Partial agenesis of corpus callosum, Plagiocephaly, Polymicrogyria, Ptosis, Restrictive external opthalmoplegia, Sensorineural hearing loss, Social communication disorder, Spastic ataxia, Spastic quadriplegia, Stereotyped behavior, Strabismus, Tubulinopathy-associated dysgyriaView all (40 more) |
|
819
|
|
|
Tubulin beta 4A class IVa |
DYT4, TUBB4, beta-5 |
Acquired kyphoscoliosis, Blepharospasm, Cerebellar atrophy, Cerebral palsy, Choreoathetosis, Congenital kyphoscoliosis, Dementia, Developmental delay, Developmental regression, Dwarfism, Dysarthria, Dysphagia, Dystonia, Hypomyelination with atrophy of basal ganglia and cerebellum, Laryngeal dystonia, Leukodystrophy, Mental retardation, Microcephaly, Motor delay, Movement disorders, Nystagmus, Optic atrophy, Specific learning disorder, Tetraparesis, Whispering dysphoniaView all (10 more) |
|
820
|
|
|
Tubulin beta 4B class IVb |
Beta2, LCAEOD, TUBB2, TUBB2C |
|
