711
|
|
|
Splicing factor SWAP |
SFRS8, SWAP |
|
712
|
|
|
SIL1 nucleotide exchange factor |
BAP, MSS, ULG5 |
Cubitus valgus, Ataxia, Avascular necrosis of the capital femoral epiphysis, Brachydactyly, Cataract, Cerebellar ataxia, Cerebellar cortical atrophy, Cerebellar degenerations, Cerebellar hypoplasia, Congenital pectus carinatum, Corticostriatal-spinal degeneration, Developmental delay, Dwarfism, Dysarthria, Dyskinetic syndrome, Hypogonadism, Legg-calve-perthes disease, Marie cerebellar ataxia, Marinesco-sjogren syndrome, Mental retardation, Microcephaly, Muscular dystrophy, Myopathy, Nervous system diseases, Nystagmus, Optic atrophy, Prostatic neoplasms, Prostate cancer, Scoliosis, Specific learning disorder, Spinocerebellar degeneration, StrabismusView all (17 more) |
713
|
|
|
Surfactant protein B |
PSP-B, SFTB3, SFTP3, SMDP1, SP-B |
Alveolar proteinosis, Congenital alveolar dysplasia, Hyaline membrane disease, Lung neoplasms, Lung cancer, Lung diseases, Pulmonary arterial hypertension, Respiratory distress syndrome, Respiratory failure, Surfactant metabolism dysfunction, pulmonary, Ventricular hypertrophy |
714
|
|
|
Surfactant protein C |
BRICD6, PSP-C, SFTP2, SMDP2, SP-C, SP5 |
Alveolar proteinosis, Bronchiectasis, Congenital alveolar dysplasia, Cirrhosis, Congenital peripheral neuropathy, Diffuse interstitial pulmonary fibrosis, Disorder of skeletal muscle, Gastroesophageal reflux disease, Honeycomb lung, Hyaline membrane disease, Interstitial lung disease, Lung adenocarcinoma, Lung diseases, Myopathy, Hypotonia, Sclerocystic ovaries, Polycystic ovary syndrome, Pulmonary arterial hypertension, Pulmonary fibrosis, Hamman-rich syndrome, Pulmonary surfactant metabolism dysfunction, Respiratory distress syndrome, Respiratory distress with surfactant metabolism deficiencyView all (8 more) |
715
|
|
|
Succinate dehydrogenase complex assembly factor 1 |
LYRM8, MC2DN2 |
Arteriosclerotic dementia, Cardiomyopathy, Dementia, Developmental regression, Disorder of skeletal muscle, Distal amyotrophy, Dwarfism, External ophthalmoplegia, Hypertrophic cardiomyopathy, Impaired cognition, Isolated succinate-coq reductase deficiency, Left ventricular hypertrophy, Left ventricular noncompaction, Mitochondrial complex deficiency, Mitochondrial diseases, Motor delay, Myoclonic seizures, Hypotonia, Noncompaction cardiomyopathy, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Spastic tetraparesis, Binswanger disease, Subcortical vascular dementia, Vascular dementia, Vesicoureteral refluxView all (13 more) |
716
|
|
|
Surfactant protein D |
COLEC7, PSP-D, SFTP4, SP-D |
|
717
|
|
|
Sarcoglycan alpha |
50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin |
|
718
|
|
|
Sushi domain containing 1 |
- |
|
719
|
|
|
SNCA antisense RNA 1 |
- |
|
720
|
|
|
SIN3A corepressor complex component SDS3 |
SAP45, SDS3 |
|