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1941
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Copine 4 |
COPN4, CPN4 |
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1942
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Potassium voltage-gated channel subfamily H member 8 |
ELK, ELK1, Kv12.1, elk3, hElk-1 |
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1943
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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) |
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1944
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DnaJ heat shock protein family (Hsp40) member C19 |
PAM18, TIM14, TIMM14 |
3-methylglutaconic aciduria, Amyotrophy, Anemia, Arachnoid cyst, Brainstem atrophy, Cardiomyopathy, Congenital hypoplasia of penis, Congestive heart failure, Cryptorchidism, Developmental delay, Developmental regression, Diaphragmatic eventration, Dilated cardiomyopathy with ataxia, Dyskinetic syndrome, Hypospadias, Hypothyroidism, Mental retardation, Microcytic anemia, Muscular ventricular septal defect, Hypoglycemia, Hypotonia, Noncompaction cardiomyopathy, Optic atrophy, Repetitive compulsive behavior, Sensorineural hearing lossView all (10 more) |
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1945
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FAM3 metabolism regulating signaling molecule D |
EF7, OIT1 |
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1946
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Catechol-O-methyltransferase |
HEL-S-98n |
22q11 deletion syndrome, 22q11 partial monosomy syndrome, 22q11.2 deletion syndrome, Acne, Acrocephaly, Affective psychosis, Age-related memory disorders, 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, 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, Mammary neoplasms, Manic disorder, Marfan syndrome, Memory disorders, Mental depression, Mental disorders, 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, Prostate cancer, Prostatic neoplasms, 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) |
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1947
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Kelch like family member 40 |
KBTBD5, NEM8, SRYP, SYRP |
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Congenital nemaline myopathy, Dysphagia, Facial paralysis, Hypospadias, Motor delay, Myofibrillar myopathy, Nemaline myopathy, Pena shokeir syndrome, Penis agenesis, Respiratory failure |
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1948
|
|
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Coat protein complex I subunit alpha |
AIAISD, AILJK, HEP-COP, alpha-COP |
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1949
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Tripartite motif containing 71 |
HYC4, HYDCC1, LIN-41, LIN41 |
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1950
|
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Family with sequence similarity 131 member A |
C3orf40, FLAT715, PRO1378 |
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