|
1121
|
|
|
Phenylalanyl-tRNA synthetase 2, mitochondrial |
COXPD14, FARS1, HSPC320, PheRS, SPG77, mtPheRS |
Acquired kyphoscoliosis, Brainstem atrophy, Cerebellar atrophy, Cerebral atrophy, Combined oxidative phosphorylation deficiency, Congenital clubfoot, Congenital kyphoscoliosis, Cryptorchidism, Detrusor and sphincter dyssynergia, Developmental delay, Developmental regression, Dysarthria, Glaucoma, Leigh syndrome, Leukemia, Microcephaly, Mitochondrial encephalomyopathy, Necrotizing encephalomyelopathy, Neurogenic urinary bladder, Neuromuscular dysphagia, Obesity, Ptosis, Spastic paraplegia, Strabismus, Sudden episodic apneaView all (10 more) |
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1122
|
|
|
Cell growth regulator with EF-hand domain 1 |
CGR11 |
|
|
1123
|
|
|
G protein subunit alpha 13 |
G13, HG1N |
|
|
1124
|
|
|
TNF superfamily member 13b |
BAFF, BLYS, CD257, DTL, TALL-1, TALL1, THANK, TNFSF20, TNLG7A, ZTNF4 |
|
|
1125
|
|
|
Chondroitin sulfate proteoglycan 5 |
NGC |
|
|
1126
|
|
|
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 |
3-Gn-T1, 3-Gn-T2, B3GN-T2, B3GNT, B3GNT-2, B3GNT1, BETA3GNT, BGNT2, BGnT-2, beta-1, beta3Gn-T1, beta3Gn-T2 |
|
|
1127
|
|
|
- |
- |
|
|
1128
|
|
|
Centrin 1 |
CEN1, CETN |
|
|
1129
|
|
|
G protein subunit beta 5 |
GB5, HG2E, IDDCA, LADCI, LDMLS1, LDMLS2, gbeta5 |
|
|
1130
|
|
|
EBP cholestenol delta-isomerase |
CDPX2, CHO2, CPX, CPXD, MEND |
Alopecia, Aortic valve sclerosis, Calcification of trachea, Camptodactyly of fingers, Cataract, Chondrodysplasia punctata, Chondrodysplasia, x-linked, Congenital clubfoot, Congenital epicanthus, Congenital heart defects, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Dwarfism, Exfoliative dermatitis, Frontal bossing, Glaucoma, Hearing loss, High palate, Hydrocephalus, Hydronephrosis, Hypoplasia of corpus callosum, Ichthyosis, Ichthyosis congenita, Mend syndrome, Mental retardation, Microcornea, Micrognathism, Microphthalmos, Nystagmus, Optic atrophy, Polydactyly, Polydactyly of toes, Ptosis, Rhizomelia, Scoliosis, Syndactyly of the toes, Tracheal stenosisView all (23 more) |