|
831
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit C1 |
BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3 |
|
|
832
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit C2 |
BAF170, CRACC2, CSS8, Rsc8 |
Cataract, Coffin-siris syndrome, Congenital diaphragmatic hernia, Congenital epicanthus, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Dyssomnia, Ectopic kidney, Hydronephrosis, Hypoplasia of corpus callosum, Macrostomia, Mental retardation, Microcephaly, Nystagmus, Partial agenesis of corpus callosum, Ptosis, Scoliosis, Sleep disorders, Spina bifida occulta, StrabismusView all (8 more) |
|
833
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit D1 |
BAF60A, CRACD1, CSS11, Rsc6p |
|
|
834
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit D2 |
BAF60B, CRACD2, PRO2451, Rsc6p, SGD2 |
|
|
835
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit D3 |
BAF60C, CRACD3, Rsc6p |
|
|
836
|
|
|
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
BAF57, CSS5 |
Adenocarcinoma, Arachnodactyly, Atrial septal defect, Hereditary cancer syndrome, Cataract, Cerebellar hypoplasia, Coffin-siris syndrome, Congenital diaphragmatic hernia, Congenital epicanthus, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Ectopic kidney, Hydronephrosis, Hypoplasia of corpus callosum, Macrostomia, Meningioma, Mental retardation, Microcephaly, Multiple congenital anomalies, Multiple meningioma, Nystagmus, Partial agenesis of corpus callosum, Ptosis, Scoliosis, Spina bifida occulta, StrabismusView all (14 more) |
|
837
|
|
|
Survival of motor neuron 1, telomeric |
BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A |
Amyotrophy, Arthrogryposis multiplex congenita, Atrial septal defect, Bulbospinal neuronopathy, Distal hereditary motor neuronopathy, Distal spinal muscular atrophy, Hereditary motor neuropathy, Myelopathic muscular atrophy, Oculopharyngeal spinal muscular atrophy, Spinal muscular atrophy, Progressive muscular atrophy, Progressive proximal myelopathic muscular atrophy, Proximal spinal muscular atrophy, Respiratory failure, Scapuloperoneal spinal muscular atrophy, Ventricular septal defectView all (1 more) |
|
838
|
|
|
Survival of motor neuron 2, centromeric |
BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B |
Bulbospinal neuronopathy, Distal hereditary motor neuronopathy, Distal spinal muscular atrophy, Hereditary motor neuropathy, Myelopathic muscular atrophy, Oculopharyngeal spinal muscular atrophy, Spinal muscular atrophy, Progressive muscular atrophy, Progressive proximal myelopathic muscular atrophy, Proximal spinal muscular atrophy, Respiratory failure, Scapuloperoneal spinal muscular atrophy |
|
839
|
|
|
Smoothened, frizzled class receptor |
CRJS, FZD11, Gx, PHLS, SMOH |
Agenesis of corpus callosum, Ameloblastoma, Angioblastic meningioma, Angiomatous meningioma, Benign meningioma, Blepharophimosis, Brain neoplasms, Intracranial neoplasm, Carcinoma, Carcinoma, somatic, Cerebral convexity meningioma, Cerebral primitive neuroectodermal tumor, Coloboma of optic disc, Congenital coloboma of iris, Congenital dermal melanocytosis, Congenital malrotation of intestine, Congenital ocular coloboma, Craniosynostosis, Curry-jones syndrome, Developmental delay, Ependymoblastoma, Fibrous meningioma, Fossa meningioma, Gastrointestinal stromal tumor, Hamartoma, Hemangioblastic meningioma, Hemangiopericytic meningioma, Hypertrichosis, Hypopigmentation disorder, Intracranial meningioma, Intraorbital meningioma, Intraventricular meningioma, Jaw abnormalities, Malignant meningioma, Maxillary neoplasms, Medulloblastoma, Medulloepithelioma, Meningioma, Meningothelial meningioma, Mental retardation, Microcystic meningioma, Microphthalmos, Neuroectodermal tumors, Olfactory groove meningioma, Osteoarthritis of hip, Papillary meningioma, Papilloma, Parasagittal meningioma, Polydactyly, Polydactyly of toes, Promyelocytic leukemia, Psammomatous meningioma, Radial polydactyly, Secretory meningioma, Skin cancer, Skin neoplasms, Sphenoid wing meningioma, Spinal meningioma, Spongioblastoma, Subfertility, Syndactyly, Syndactyly of fingers, Syndactyly of the toes, Transitional meningioma, Xanthomatous meningiomaView all (50 more) |
|
840
|
|
|
Sphingomyelin phosphodiesterase 1 |
ASM, ASMASE, NPD |
Anemia, Apraxia, Attention deficit hyperactivity disorder, Bipolar disorder, Cholelithiasis, Cirrhosis, Coronary arteriosclerosis, Developmental delay, Dwarfism, Hypersplenism, Immune thrombocytopenic purpura, Kidney disease, Liver neoplasms, Liver failure, Lung diseases, Lupus erythematosus, Major affective disorder, Mental depression, Mental retardation, Nervous system diseases, Neuronal ceroid lipofuscinosis, Niemann-pick disease, Niemann-pick disease, protracted neurovisceral, Nystagmus, Osteopenia, Osteoporosis, Promyelocytic leukemia, Sea-blue histiocytosis, Specific learning disorder, Sphingomyelinase deficiency, XanthomatosisView all (16 more) |
