|
1041
|
|
|
Symplekin scaffold protein |
Pta1, SPK, SYM |
|
|
1042
|
|
|
SEH1 like nucleoporin |
SEC13L, SEH1A, SEH1B, Seh1 |
|
|
1043
|
|
|
Synapsin III |
- |
Benign prostatic hyperplasia, Bipolar disorder, Chronic obstructive pulmonary disease, Developmental delay, Exudative macular degeneration, Fundus dystrophy, pseudoinflammatory, of sorsby, Geographic atrophy, Inflammatory bowel disease, Age-related macular degeneration, Pyoderma gangrenosum, Schizophrenia |
|
1044
|
|
|
Structural maintenance of chromosomes 1A |
CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB |
Adenocarcinoma, Anxiety disorder, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Urinary bladder cancer, Bladder neoplasm, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Cataract, Cerebral cortical atrophy, Choanal atresia, Clinodactyly, Congenital diaphragmatic hernia, Congenital epicanthus, Congenital hypoplasia of penis, Congenital malrotation of intestine, Congenital muscular hypertrophy-cerebral syndrome, Congenital pectus excavatum, Cornelia de lange syndrome, Cryptorchidism, Cutis marmorata, Developmental delay, Dolichocephaly, Dwarfism, Dysmorphic features, Dysmorphism, Dysphagia, Dyssomnia, Epilepsy, Epileptic encephalopathy, Gastroesophageal reflux disease, Glaucoma, Growth deficiency and mental retardation with facial dysmorphism, Hearing loss, High palate, Hypertrichosis, Hypoplasia of nipple, Hypospadias, Impaired cognition, Mental retardation, Intestinal volvulus, Isolated somatotropin deficiency, Macrotia, Microcephaly, Microcornea, Micrognathism, Micromelia, Monocytic leukemia, Movement disorders, Multicystic renal dysplasia, Multiple congenital anomalies, Myeloid leukemia, Myopia, Nail dysplasia, Neck webbing, Nervous system diseases, Neurodevelopmental disorders, Nystagmus, Obsessive-compulsive disorder, Oligodactyly, Phthisis bulbi, Physiologic amenorrhea, Promyelocytic leukemia, Ptosis, Radioulnar synostosis, Renal insufficiency, Rhizomelia, Semilobar holoprosencephaly, Sleep disorders, Somatotropin deficiency, Speech disorders, Stereotyped behavior, Strabismus, Syndactyly of the toes, Synophrys, Talipes, Uterine anomalies, Ventricular septal defect, Vesicoureteral reflux, Wiedemann-steiner syndromeView all (67 more) |
|
1045
|
|
|
Sestrin 2 |
HI95, SES2, SEST2 |
|
|
1046
|
|
|
SH3 domain binding glutamate rich protein like 2 |
- |
|
|
1047
|
|
|
Spermatogenesis associated 16 |
NYD-SP12, SPGF6 |
|
|
1048
|
|
|
Serine/threonine kinase 40 |
SHIK, SgK495 |
|
|
1049
|
|
|
SprT-like N-terminal domain |
C1orf124, DVC1, PRO4323, spartan |
Capsular cataract, Clinodactyly, Cockayne syndrome, Congenital pectus excavatum, Dwarfism, Elbow flexion contracture, Frontal bossing, Lipodystrophy, Liver carcinoma, Micrognathism, Progeria, Progeroid features hepatocellular carcinoma predisposition syndrome, Ruijs-aalfs syndrome |
|
1050
|
|
|
Solute carrier family 4 member 11 |
BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2 |
Chandler syndrome, Congenital corneal dystrophy, Congenital hereditary endothelial dystrophy, Corneal dystrophy, Corneal dystrophy and perceptive deafness, Corneal dystrophy-perceptive deafness syndrome, Corneal endothelial dystrophy, Corneal guttata, Fuchs endothelial dystrophy, Hearing loss, Nystagmus |
