|
371
|
|
|
Solute carrier family 26 member 11 |
- |
|
|
372
|
|
|
Solute carrier family 25 member 42 |
MECREN |
Cardiomyopathy, Choreoathetosis, Developmental regression, Hypocupremia, Intermittent lactic acidemia, Migraine with aura, Mitochondrial myopathy, Neuromuscular dysphagia, Panic disorder, Trismus, Vitamin d deficiency |
|
373
|
|
|
Small nucleolar RNA host gene 28 |
C1orf204, VSIG8-OT1 |
|
|
374
|
|
|
Sperm-tail PG-rich repeat containing 4 |
C2orf61, GSE |
|
|
375
|
|
|
Solute carrier family 9 member A9 |
AUTS16, NHE9 |
|
|
376
|
|
|
Sulfatase modifying factor 1 |
AAPA3037, FGE, UNQ3037 |
Cataract, Central nervous system demyelination, Cerebellar atrophy, Cerebral atrophy, Developmental delay, Developmental regression, Dwarfism, Hearing loss, Hydrocephalus, Ichthyosis, Macrocephaly, Mental retardation, Microcephaly, Multiple sclerosis, Multiple sulfatase deficiency, Narcolepsy, Hypotonia, Optic atrophy, Pfaundler-hurler syndrome, SulfatidosisView all (5 more) |
|
377
|
|
|
SH3 and PX domains 2B |
FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4 |
Acne, Bone disease, Borrone di rocco crovato syndrome, Brachydactyly, Camptodactyly of fingers, Congenital clubfoot, Congenital exomphalos, Congenital genu recurvatum, Congenital pectus excavatum, Frank-ter haar syndrome, Glaucoma, Glaucoma, congenital, Gynecomastia, High palate, Macrostomia, Malocclusion, Micrognathism, Mitral valve prolapse, Osteopenia, Osteoporosis, Proptosis, Scoliosis, Ter haar syndromeView all (8 more) |
|
378
|
|
|
SLC26A4 antisense RNA 1 |
- |
|
|
379
|
|
|
STON1-GTF2A1L readthrough |
ALF, GTF2A1L, GTF2A1LF, SALF |
|
|
380
|
|
|
Solute carrier family 27 member 6 |
ACSVL2, FACVL2, FATP6, VLCS-H1 |
|
