321
|
|
|
Chromosome 2 open reading frame 76 |
AIM29 |
|
322
|
|
|
Collagen type XIII alpha 1 chain |
CMS19, COLXIIIA1 |
Acquired kyphoscoliosis, Arthrogryposis multiplex congenita, Bulbar palsy, Developmental dysplasia of the hip, Congenital kyphoscoliosis, Myasthenic syndrome, Congenital pectus carinatum, Developmental delay, Distal amyotrophy, Dysphagia, Esotropia, Facial paralysis, Gastroesophageal reflux disease, Hearing loss, High palate, Liver cirrhosis, Mental retardation, Micrognathism, Miscarriage, Motor delay, Myasthenia gravis, Myocardial infarction, Non-alcoholic fatty liver disease, Nystagmus, Parkinson disease, Polyneuropathy, Ptosis, Respiratory failure, Sleep apnea, Sudden episodic apneaView all (15 more) |
323
|
|
|
Collagen type XV alpha 1 chain |
- |
|
324
|
|
|
Carboxypeptidase O |
- |
|
325
|
|
|
Collagen type XVII alpha 1 chain |
BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1 |
Amelogenesis imperfecta, Anemia, Anonychia, Aplasia cutis congenita, Corneal erosion, Dental enamel hypoplasia, Epidermolysis bullosa, Epithelial erosion dystrophy, Excessive tearing, Hyperhidrosis palmaris et plantaris, Hypodontia, Junctional epidermolysis bullosa, Nail diseases, Nail dysplasia, Nail dystrophy, Palmoplantar keratoderma, Biliary cirrhosisView all (2 more) |
326
|
|
|
Coiled-coil domain containing 148 |
- |
|
327
|
|
|
Collagen type XIX alpha 1 chain |
COL9A1L, D6S228E |
|
328
|
|
|
Copine 4 |
COPN4, CPN4 |
|
329
|
|
|
Cartilage oligomeric matrix protein |
CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5 |
Arthritis, Avascular necrosis of the capital femoral epiphysis, Brachydactyly, Congenital genu recurvatum, Dwarfism, Epiphyseal dysplasia, Hamartomatous polyposis, Intestinal polyposis, Legg-calve-perthes disease, Micromelia, Multiple epiphyseal dysplasia, Osteoarthritis of hip, Osteoarthrosis deformans, Pseudoachondroplasia, Scoliosis, Sensory neuropathyView all (1 more) |
330
|
|
|
Catechol-O-methyltransferase |
HEL-S-98n |
22q11 deletion syndrome, 22q11 partial monosomy syndrome, 22q11.2 deletion syndrome, Acne, Acrocephaly, Affective psychosis, Anhedonia, Anxiety disorder, Arachnodactyly, Arrhinencephaly, Arthritis, Asthma, Asymmetric crying face association, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Behavior disorders, Bipolar disorder, Bowel incontinence, Breast cancer, Mammary neoplasms, Breast carcinoma, Cataract, Choanal atresia, Cholelithiasis, Chronic obstructive pulmonary disease, Cognitive disorder, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Congenital hypoplasia of thymus, Congenital malrotation of intestine, Conotruncal anomaly face syndrome, Corneal neovascularization, Cryptorchidism, Delusions, Developmental delay, Digeorge syndrome, Dwarfism, Dysphasia, Extra-adrenal pheochromocytoma, Gastroesophageal reflux disease, Glaucoma, Hallucinations, Hearing loss, Hirschsprung disease, Hydrocephalus, Hyperthyroidism, Hypoparathyroidism, Hypospadias, Hypothyroidism, Immunologic deficiency syndromes, Imperforate anus, Laryngomalacia, Liver carcinoma, Major affective disorder, Manic disorder, Marfan syndrome, Memory disorders, Age-related memory disorders, Mental disorders, Mental depression, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Microstomia, Minimal brain dysfunction, Mood disorder, Multiple renal cysts, Myelomeningocele, Obesity, Optic atrophy, Otitis media, Panic disorder, Patent ductus arteriosus, Persistent truncus arteriosus, Pheochromocytoma, Platybasia, Polycystic kidney disease, Polydactyly of toes, Posterior embryotoxon, Prostatic neoplasms, Prostate cancer, Ptosis, Renal hypoplasia, Schizophrenia, Scoliosis, Seborrheic dermatitis, Shprintzen syndrome, Specific learning disorder, Strabismus, Temporomandibular joint disorders, Tetralogy of fallot, Tricuspid atresia, Uterine anomalies, Ventricular septal defect, Vesicoureteral reflux, Vulval varicesView all (84 more) |