|
821
|
|
|
Solute carrier family 22 member 4 |
DFNB60, ETTh, OCTN1 |
|
|
822
|
|
|
Solute carrier family 22 member 5 |
CDSP, OCTN2 |
Anemia, Asthma, Autoimmune diseases, Bilateral convulsive seizures, Cardiomyopathy, Carditis, Congestive heart failure, Crohn disease, Encephalopathy, Endocardial fibroelastosis, Epileptic encephalopathy, Fatty liver, Hypertrophic cardiomyopathy, Hypoglycemia, Malignant mesothelioma, Myocarditis, Myopathy, Propionic acidemia, Renal carnitine transport defect, Systemic carnitine deficiencyView all (5 more) |
|
823
|
|
|
Slit guidance ligand 1 |
MEGF4, SLIL1, SLIT-1, SLIT3 |
|
|
824
|
|
|
Slit guidance ligand 3 |
MEGF5, SLIL2, SLIT1, Slit-3, slit2 |
|
|
825
|
|
|
Snail family transcriptional repressor 2 |
SLUG, SLUGH, SLUGH1, SNAIL2, WS2D |
Absent pigmentation of the ventral chest, Nonmedullary thyroid carcinoma, Anomalous pulmonary artery, Breast cancer, Mammary neoplasms, Breast carcinoma, Congenital sensorineural hearing loss, Esophagus neoplasm, Hearing loss, Hirschsprung disease, Klein`s syndrome, Marfan syndrome, Mental retardation, Microcephaly, Multicystic renal dysplasia, Neoplasms, Papillary thyroid carcinoma, Piebaldism, Ptosis, Skin neoplasms, Synophrys, Thyroid cancer, Tumoral calcinosis, Waardenburg syndromeView all (9 more) |
|
826
|
|
|
SNF2 related chromatin remodeling ATPase 1 |
ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L |
|
|
827
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
BAF190, BIS, BRM, NCBRS, SAMRCA2, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a |
Absent eyebrow, Adenocarcinoma, Alopecia, Aphasia, Blepharophimosis, Brachydactyly, Coffin-siris syndrome, Cryptorchidism, Developmental delay, Dwarfism, Dysmorphic features, Dysphasia, Eczema, Hypotrichosis, Mental retardation, Macrostomia, Malignant mesothelioma, Microcephaly, Movement disorders, Nicolaides baraitser syndrome, Precocious puberty, Salaam seizures, Schizophrenia, Scoliosis, Specific learning disorder, Status epilepticusView all (11 more) |
|
828
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12, RTPS2, SNF2, SNF2-beta, SNF2L4, SNF2LB, SWI2, hSNF2b |
African burkitt`s lymphoma, Atrioventricular septal defect, Burkitt`s lymphoma, Hereditary cancer syndrome, Carcinoma, Carotid atherosclerosis, Cataract, Central nervous system neoplasms, Coffin-siris syndrome, Colorectal neoplasms, Colorectal cancer, Congenital diaphragmatic hernia, Congenital epicanthus, Congenital heart defects, Coronary artery disease, Coronary heart disease, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Ectopic kidney, Endometrial stromal sarcoma, Hereditary nonpolyposis colorectal cancer, Hydronephrosis, Hypertrichosis, Hypoplasia of corpus callosum, Ischemic stroke, Lung carcinoma, Lymphoblastic leukemia, Macroglossia, Macrostomia, Mental retardation, Microcephaly, Multiple congenital anomalies, Myocardial infarction, Nystagmus, Ovarian neoplasm, Ovarian cancer, Ovarian carcinoma, Partial agenesis of corpus callosum, Ptosis, Rhabdoid tumor, Rhabdoid tumor predisposition syndrome, Sarcoma, Sarcoma of thorax, Scoliosis, Sezary syndrome, Spina bifida occulta, Strabismus, Stroke, Thoracic neoplasmsView all (37 more) |
|
829
|
|
|
Serine/threonine kinase 33 |
SPGF93 |
|
|
830
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS |
Amnesia, Brain neoplasms, Hereditary cancer syndrome, Cataract, Central nervous system neoplasms, Cerebellar hypoplasia, Cerebral palsy, Choroid plexus carcinoma, Coffin-siris syndrome, Congenital diaphragmatic hernia, Congenital epicanthus, Congenital heart defects, Cranial nerve paralysis, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dextrocardia, Dwarfism, Dysmorphic features, Ectopic kidney, Erectile dysfunction, Facial paralysis, Growth hormone deficiency, Hemiplegia/hemiparesis, Hiatal hernia, High palate, Hydrocephalus, Hydronephrosis, Hypertrichosis, Hypogonadotropic hypogonadism, Hypoplasia of corpus callosum, Hypothalamic hypothyroidism, Intracranial meningioma, Macrocephaly, Macroglossia, Macrostomia, Malignant neoplasm of the central nervous system, Malignant rhabdoid tumor, Medulloblastoma, Meningioma, Mental retardation, Microcephaly, Migraine, Mood swings, Multiple congenital anomalies, Multiple meningioma, Neurilemmoma, Neurofibroma, Neurofibromatosis, Nystagmus, Obesity, Oculomotor nerve palsy, Papilledema, Partial agenesis of corpus callosum, Peripheral schwannoma, Brain stem compression, Proptosis, Ptosis, Rhabdoid tumor, Rhabdoid tumor predisposition syndrome, Schwannomatosis, Scoliosis, Hypothyroidism, Speech disorders, Spina bifida occulta, Spinal cord neoplasms, Spinal meningioma, Strabismus, Teratoid rhabdoid tumor, Teratoid tumor, Tongue neoplasms, Trigeminal neuralgiaView all (58 more) |
