|
2981
|
|
|
Erythrocyte membrane protein band 4.2 |
PA, SPH5 |
Anemia, Cholelithiasis, Elliptocytosis, Fibrinogen deficiency, Gout, Hereditary spherocytosis, Hyperbilirubinemia, Hypofibrinogenemia, Restrictive cardiomyopathy, Spherocytosis, Thrombophilia |
|
2982
|
|
|
Anoctamin 5 |
GDD1, LGMD2L, LGMDR12, TMEM16E |
Cardiomyopathy, Cardiovascular diseases, Congenital genu recurvatum, Contracture of hamstring, Distal amyotrophy, Distal anoctaminopathy, Elbow flexion contracture, Facial paralysis, Flexion contracture of wrist, Gnathodiaphyseal dysplasia, Hereditary fructosuria, Limb amyotrophy, Limb-girdle muscular dystrophy, Miyoshi muscular dystrophy, Muscular dystrophy, Myopathy, Osteogenesis imperfecta, Osteomyelitis, Mandibular osteomyelitis, Osteopenia, Pelvic girdle muscle atrophy, Polycystic kidney disease, ScoliosisView all (8 more) |
|
2983
|
|
|
Adenylate kinase 2 |
ADK2 |
Anemia, Bare lymphocyte syndrome, Congenital hypoplasia of thymus, Congenital neutropenia, De vaal`s syndrome, Deafness, Leukopenia, Lymphopenia, Malabsorption syndrome, Omenn syndrome, Otitis media, Reticular dysgenesis, Severe combined immunodeficiency disease |
|
2984
|
|
|
Ribosomal protein SA pseudogene 52 |
RPSA_17_1251 |
|
|
2985
|
|
|
EPH receptor A1 |
EPH, EPHT, EPHT1 |
|
|
2986
|
|
|
EPH receptor A3 |
EK4, ETK, ETK1, HEK, HEK4, TYRO4 |
|
|
2987
|
|
|
Ceramide synthase 3 |
ARCI9, LASS3 |
Alopecia, Congenital nonbullous ichthyosiform erythroderma, Corneal erosion, Dwarfism, Ectropion, Exfoliative dermatitis, Hypohidrosis, Ichthyosis, Ichthyosis congenita, Ichthyosis with hypotrichosis, Ichthyosis-short stature-brachydactyly-microspherophakia syndrome, Keratitis, Palmoplantar keratoderma, Weill-marchesani syndrome |
|
2988
|
|
|
EPH receptor A4 |
EK8, HEK8, SEK, TYRO1 |
|
|
2989
|
|
|
EPH receptor A5 |
CEK7, EHK-1, EHK1, EK7, HEK7, TYRO4 |
|
|
2990
|
|
|
Protein disulfide isomerase like, testis expressed |
PDIA7 |
|