|
1131
|
|
|
BUB1B-PAK6 readthrough |
PAK-5, PAK-6, PAK5, PAK6 |
|
|
1132
|
|
|
Delta like canonical Notch ligand 3 |
SCDO1 |
Abnormal spinal segmentation, Acquired kyphoscoliosis, Anaplastic astrocytoma, Astrocytoma, Chondrodystrophic myotonia, Congenital diaphragmatic hernia, Congenital exomphalos, Rib fusion, Congenital kyphoscoliosis, Congenital meningocele, Cryptorchidism, Dwarfism, Dyschondroplasias, Fibrillary astrocytoma, Gemistocytic astrocytoma, Grade i astrocytoma, Hypospadias, Intracranial astrocytoma, Jarcho-levin syndrome, Leukodystrophy and acquired microcephaly with or without dystonia, Macrocephaly, Melnick-needles syndrome, Mental retardation, Microcephaly, Multiple epiphyseal dysplasia, Oligoastrocytoma, Osteochondrodysplasia, Protoplasmic astrocytoma, Pulmonary venous return anomaly, Schwartz-jampel syndrome, Scoliosis, Spina bifida occulta, Spondylocostal dysostosis, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Syndactyly of fingers, Van buchem diseaseView all (22 more) |
|
1133
|
|
|
Claudin 16 |
HOMG3, PCLN1 |
Astigmatism, Hypercalciuria, Hyperopia, Hyperuricemia, Hypomagnesemia, Kidney disease, Medullary nephrocalcinosis, Myopia, Nephrocalcinosis, Nephrolithiasis, Nystagmus, Hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement, Strabismus |
|
1134
|
|
|
Chaperonin containing TCP1 subunit 6B |
CCT-zeta-2, CCTZ-2, Cctz2, TCP-1-zeta-2, TSA303 |
|
|
1135
|
|
|
Canopy FGF signaling regulator 3 |
CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5 |
|
|
1136
|
|
|
Corin, serine peptidase |
ATC2, CMH30, CRN, Lrp4, PEE5, TMPRSS10 |
|
|
1137
|
|
|
Adenylate cyclase 1 |
AC1, DFNB44 |
|
|
1138
|
|
|
Septin 14 pseudogene 21 |
SEPT14P21 |
|
|
1139
|
|
|
MT-CO2 pseudogene 12 |
COII, COX2, COXII, MT-CO2, MTCO2 |
|
|
1140
|
|
|
Cholesteryl ester transfer protein |
BPIFF, HDLCQ10 |
Age-related macular degeneration, Asthma, Atherosclerosis, Cardiovascular diseases, Childhood obesity, Cholesterol-ester transfer protein deficiency, Coronary heart disease, Dyslipidemias, Exudative macular degeneration, Geographic atrophy, Hyperalphalipoproteinemia, Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, Hypertension, Hypotriglyceridemia, Liver carcinoma, Metabolic syndromeView all (3 more) |