2951
|
|
|
SPECC1 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
|
2952
|
|
|
Sperm antigen with calponin homology and coiled-coil domains 1 like |
CYTSA, GBBB2, OBLFC1, TBHS, TBHS1 |
Curated: Opitz g/bbb syndrome, Commissural facial cleft, Coronary artery disease, Craniosynostosis, Desbuquois syndrome, Intellectual developmental disorder, Major depressive disorder, Kawasaki disease, Myocardial infarction, Teebi syndrome, Tessier facial cleft, Diabetes mellitus type 2
Unreviewed: Agenesis Of Corpus Callosum, Agenesis Of Gallbladder, Anxiety Disorder, Aortic Coarctation, Atrial Septal Defect, Autism, Brachycephaly, Brachydactyly, Brain neoplasms, Camptodactyly of fingers, Cerebral cortical atrophy, Cleft lip, Coloboma, Congenital Epicanthus, Congenital Exomphalos, Congenital omphalocele, Congenital Pectus Excavatum, Craniofacial abnormalities, Cryptorchidism, Development Disorder, Developmental Delay, DiGeorge Syndrome, Dwarfism, Dysphagia, Ectopic kidney, Female Pseudohermaphroditism, Frontal bossing, Hearing Loss, Hiatal Hernia, High palate, Hypertelorism Syndrome, Hypospadias, Imperforate anus, Laryngeal cleft, Laryngitis, Macrostomia, Mental retardation, Micrognathism, Microphthalmia, Multicystic renal dysplasia, Nasopharyngeal carcinoma, Neoplasms, Oculomaxillofacial Dysostosis, Opitz GBBB syndrome, Opitz GBBB Syndrome, X-Linked, Oral cleft, Patent ductus arteriosus, Posteriorly Rotated Ear, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Sarcoma, Spade-Like Hand, Strabismus, Syndactyly of fingers, Teebi Syndrome, Tetralogy of Fallot, Ventricular septal defect
|
2953
|
|
|
SPECC1L-ADORA2A readthrough (NMD candidate) |
- |
Curated: N/A
Unreviewed: Oculomaxillofacial Dysostosis, Opitz GBBB syndrome, Teebi Syndrome
|
2954
|
|
|
SPECC1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
2955
|
|
|
SPECC1 pseudogene 2 |
- |
Curated: N/A
Unreviewed: N/A
|
2956
|
|
|
Sperm flagellar 1 |
C20orf28, CLAMP, SPEF1A |
Curated: N/A
Unreviewed: N/A
|
2957
|
|
|
Sperm flagellar 2 |
CT122, KPL2, SPGF43 |
Curated: Asthma, Eczema, Atrophic macular degeneration, Autoimmune thyroid disease, Biliary cirrhosis, Ciliary dyskinesia, Congenital impairment of spermatozoa motility, Duchenne muscular dystrophy, Hypothyroidism, Multiple sclerosis, Nasal polyp, Nasal disorder, Biliary cholangitis, Psoriasis, Schizophrenia, Seasonal allergic rhinitis, Spermatogenic failure, Age-related macular degeneration, primary ciliary dyskinesia
Unreviewed: Asthenozoospermia, Hydrocephalus, Infertility, Kartagener Syndrome, Lymphoma, Macular degeneration, Male infertility, Multiple Sclerosis, Nasopharyngeal carcinoma, Non-Syndromic Male Infertility Due To Sperm Motility Disorder, Pancreatitis, Thrombosis
|
2958
|
|
|
Striated muscle enriched protein kinase |
APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta |
Curated: Atrial fibrillation, Centronuclear myopathy, Obstructive pulmonary disease, Oligodendroglioma, myopathy, centronuclear, 5
Unreviewed: Amyotrophy, Arteriosclerosis, Arthrogryposis, Atherosclerosis, Cardiomyopathy, Centronuclear Myopathy, Congenital Clubfoot, Congenital myopathy, Congestive Heart Failure, Diabetes mellitus, type 1, Dilated cardiomyopathy, Dysarthria, Facial paralysis, Gastric Cancer, Heart Diseases, Heart Failure, High palate, Hip Contracture, Left Ventricular Hypertrophy, Mental retardation, Micrognathism, Microstomia, Motor delay, Myopathy, Myotonia congenita, Nervous system disease, Neuromuscular disease, Neuromuscular Diseases, Ophthalmoplegia, Oropharyngeal neoplasm, Ovarian adenocarcinoma, Pancreatic neoplasm, Pulmonary arterial hypertension
|
2959
|
|
|
SPEG neighbor |
- |
Curated: N/A
Unreviewed: N/A
|
2960
|
|
|
Spermatid maturation 1 |
C17orf83 |
Curated: Asthma
Unreviewed: Infertility, Male infertility, Non-obstructive azoospermia, Nonobstructive azoospermia, Obstructive azoospermia, Warburg micro syndrome
|