|
1181
|
|
|
Caveolin 3 |
LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21 |
Cardiomyopathy, Congenital heart defects, Congestive heart failure, Distal myopathy, Dysautonomia, Hypercholesterolemia, Hypertrophic cardiomyopathy, Isolated asymptomatic elevation of creatine phosphokinase, Limb-girdle muscular dystrophy, Long qt syndrome, Long qt syndrome digenic, Mitochondrial myopathy, Monosomy 3p25, Muscular dystrophy, Myositis, Rippling muscle disease, Romano-ward syndrome, Septal hypertrophy, Subaortic stenosis, Torsades de pointes, Ventricular arrhythmiaView all (6 more) |
|
1182
|
|
|
Calcium dependent secretion activator |
CADPS1, CAPS, CAPS1, UNC-31 |
|
|
1183
|
|
|
Cyclin dependent kinase 13 |
CDC2L, CDC2L5, CHDFIDD, CHED, hCDK13 |
Anxiety disorder, Asthma, Astigmatism, Atrial septal defect, Autism, Camptodactyly of fingers, Clinodactyly, Congenital camptodactyly, Congenital clubfoot, Congenital epicanthus, Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Dermatitis, Developmental delay, Developmental regression, Dolichocephaly, Dysmorphic features, Hypertrophy of clitoris, Hypertrophy of tonsils, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Iron deficiency anemia, Macrocephaly, Mental retardation, Micrognathism, Microstomia, Multiple congenital anomalies, Myopia, Posteriorly rotated ear, Postnatal asphyxia, Ptosis, Pulmonary stenosis, Scoliosis, Strabismus, Ventricular septal defectView all (19 more) |
|
1184
|
|
|
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4 |
|
|
1185
|
|
|
Core-binding factor subunit beta |
CLCD2, PEBP2B |
|
|
1186
|
|
|
Cbl proto-oncogene |
C-CBL, CBL2, FRA11B, NSLL, RNF55 |
Cubitus valgus, Aortic valve sclerosis, Bicuspid aortic valve, Congenital epicanthus, Congenital pectus excavatum, Cryptorchidism, Development disorder, Developmental delay, Dysmorphic features, Frontal bossing, Hematologic neoplasms, Leukemia, Macrotia, Malignant ovarian germ cell neoplasm, Mental retardation, Movement disorders, Myelodysplastic syndrome, Myelomonocytic leukemia, Neck webbing, Noonan syndrome, Noonan syndrome-like disorder with myelomonocytic leukemia, Noonan syndrome-like disorder with or without myelomonocytic leukemia, Posteriorly rotated ear, Ptosis, Systemic mastocytosis, VasculitisView all (11 more) |
|
1187
|
|
|
Cbl proto-oncogene B |
ADMIO3, Cbl-b, Nbla00127, RNF56 |
|
|
1188
|
|
|
Cathepsin F |
CATSF, CLN13 |
|
|
1189
|
|
|
Carbonyl reductase 1 |
CBR, PG-9-KR, SDR21C1, hCBR1 |
|
|
1190
|
|
|
CARD and death domain containing adaptor protein |
MRT34, RAIDD |
Absence of septum pellucidum, Alzheimer disease, Arthritis, Autism, Central visual impairment, Cerebral atrophy, Chromophobe carcinoma, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dyssomnia, Hypoplasia of corpus callosum, Mental retardation, Knee osteoarthritis, Lissencephaly, Macrocephaly, Mental depression, Microcephaly, Motor delay, Non-syndromic intellectual disability, Osteoarthritis of hip, Pachygyria, Papillary renal carcinoma, Polymicrogyria, Renal carcinoma, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (14 more) |
