|
2921
|
|
|
EMAP like 1 |
BH, ELP79, EMAP, EMAP-1, EMAPL |
Agenesis of corpus callosum, Band heterotopia, Band heterotopia of brain, Coronary artery disease, Developmental delay, Dyssomnia, Hydrocephalus, Mental retardation, Macrocephaly, Mental depression, Neuronal heterotopia, Polymicrogyria, Sleep disorders, Subcortical band heterotopia |
|
2922
|
|
|
5-hydroxytryptamine receptor 3D |
5HT3D |
|
|
2923
|
|
|
Solute carrier family 51 member A |
OSTA, OSTalpha, PFIC6, SLC51A1 |
|
|
2924
|
|
|
F-box protein 45 |
Fbx45 |
|
|
2925
|
|
|
Kelch domain containing 8B |
CHL |
|
|
2926
|
|
|
Emerin |
EDMD, LEMD5, STA |
Atrioventricular block, Cardiomyopathy, Congenital anomaly of neck, Congenital pectus excavatum, Elbow flexion contracture, Emery-dreifuss muscular dystrophy, Emery-dreifuss muscular dystrophy, x-linked, Hypertrophic cardiomyopathy, Ichthyosis, Limb-girdle muscular dystrophy, Lipodystrophy, Myopathy, Neuromuscular diseases, Obesity, Ptosis, Scoliosis, Sprengel deformity, Vocal cord paralysisView all (3 more) |
|
2927
|
|
|
Microtubule affinity regulating kinase 2 |
EMK-1, EMK1, MRD76, PAR-1, Par-1b, Par1b |
|
|
2928
|
|
|
Centrosomal protein 112 |
CCDC46, MACOCO, SPGF44 |
|
|
2929
|
|
|
Centromere protein V |
3110013H01Rik, CENP-V, PRR6, p30 |
|
|
2930
|
|
|
Folliculin |
BHD, DENND8B, FLCL |
Angiolipoma, Asthma, Astrocytoma, Autism, Birt-hogg-dube syndrome, Bronchopulmonary disease, Hereditary cancer syndrome, Cardiovascular abnormalities, Chromophobe carcinoma, Colorectal cancer, Colorectal neoplasms, Connective tissue disease, Cyst, Developmental delay, Dwarfism, Dysphasia, Fibrofolliculoma, Gastroesophageal reflux disease, Hamartoma, Hereditary nonpolyposis colorectal cancer, Hereditary renal carcinoma, High palate, Hyperopia, Hypocholesterolemia, Hypoplasia of corpus callosum, Kidney neoplasm, Kidney cancer, Language disorders, Large intestinal polyposis, Leiomyosarcoma of uterus, Lipoma, Liver neoplasms, Liver cancer, Lung diseases, Macrostomia, Malocclusion, Megalencephaly, polymicrogyria, polydactyly, hydrocephalus syndrome, Mental retardation, Microcephaly, Micrognathism, Multiple fibrofolliculomas, Multiple lipomata, Oncocytoma of kidney, Oropharyngeal dysphagia, Papillary renal carcinoma, Parathyroid adenoma, Patent foramen ovale, Pneumothorax, Potocki-lupski syndrome, Receptive language delay, Renal carcinoma, Renal cyst, Salivary gland oncocytoma, Scoliosis, Sleep apnea, Spontaneous pneumothorax, Stereotyped behavior, Stomach neoplasms, Bladder carcinoma, TrigonocephalyView all (45 more) |
