AC-Gen Reading Life - Análisis Genéticos avanzados

  • Inicio
  • Profesionales
    • Enfermedades Mendelianas
    • Cáncer Hereditario
    • Microbiología
    • Proyectos de investigación
    • Solicitud Estudio
  • Usuarios
    • Conoce tu riesgo
  • FAQ
  • Nosotros
    • Equipo
    • Comité Científico
    • Alianzas y colaboraciones
    • I+D+i
    • Noticias
  • Contacto

Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life


Busca la enfermedad o gen a estudiar
(Recomendable en inglés)
A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z 

Enfermedad/Phenotype Phenotype MIM number Simbolo del Gen Nombre del Gen
EBD inversa 226600 COL7A1  collagen, type VII, alpha 1
EBD, Bart type 132000 COL7A1  collagen, type VII, alpha 1
EBD, localisata variant   COL7A1  collagen, type VII, alpha 1
Ectodermal dysplasia 2, Clouston type 129500 GJB6  gap junction protein, beta 6, 30kDa
Ectopia lentis, familial 129600 FBN1  fibrillin 1
Ehlers-Danlos syndrome      
Ehlers-Danlos syndrome, autosomal dominant, hypermobility type 130020 TNXB  tenascin XB
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency 606408 TNXB  tenascin XB
Ehlers-Danlos syndrome, cardiac valvular form 225320 COL1A2  collagen, type I, alpha 2
Ehlers-Danlos syndrome, type I 130000 COL5A1  collagen, type V, alpha 1
Ehlers-Danlos syndrome, type I 130000 COL5A2  collagen, type V, alpha 2
Ehlers-Danlos syndrome, type I 130000 COL1A1  collagen, type I, alpha 1
Ehlers-Danlos syndrome, type II 130010 COL5A1  collagen, type V, alpha 1
Ehlers-Danlos syndrome, type III 130020 COL3A1  collagen, type III, alpha 1
Ehlers-Danlos syndrome, type IV 130050 COL3A1  collagen, type III, alpha 1
Ehlers-Danlos syndrome, type VI 225400 PLOD1  procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Ehlers-Danlos syndrome, type VIIA 130060 COL1A1  collagen, type I, alpha 1
Ehlers-Danlos syndrome, type VIIB 130060 COL1A2  collagen, type I, alpha 2
Emery-Dreifuss muscular dystrophy      
Emery-Dreifuss muscular dystrophy 1, X-linked 310300 EMD  emerin
Emery-Dreifuss muscular dystrophy 2, AD 181350 LMNA  lamin A/C
Emery-Dreifuss muscular dystrophy 3, AR 181350 LMNA  lamin A/C
Emery-Dreifuss muscular dystrophy 7, AD 614302 TMEM43  transmembrane protein 43
Emphysema due to AAT deficiency 613490 SERPINA1  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Emphysema-cirrhosis, due to AAT deficiency 613490 SERPINA1  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Encephalopathy, neonatal severe 300673 MECP2  methyl CpG binding protein 2 (Rett syndrome)
Enhanced S-cone syndrome 268100 NR2E3  nuclear receptor subfamily 2, group E, member 3
Epidermal nevus, somatic 162900 NRAS  neuroblastoma RAS viral (v-ras) oncogene homolog
Epidermolysis bullosa      
Epidermolysis bullosa dystrophica, AD 131750 COL7A1  collagen, type VII, alpha 1
Epidermolysis bullosa dystrophica, AR 226600 COL7A1  collagen, type VII, alpha 1
Epidermolysis bullosa of hands and feet 131800 ITGB4  integrin, beta 4
Epidermolysis bullosa pruriginosa 604129 COL7A1  collagen, type VII, alpha 1
Epidermolysis bullosa simplex with migratory circinate erythema 609352 KRT5  keratin 5
Epidermolysis bullosa simplex with mottled pigmentation 131960 KRT5  keratin 5
Epidermolysis bullosa simplex with pyloric atresia 612138 PLEC plectin
Epidermolysis bullosa simplex, Dowling-Meara type 131760 KRT5  keratin 5
Epidermolysis bullosa simplex, Dowling-Meara type 131760 KRT14  keratin 14
Epidermolysis bullosa simplex, Koebner type 131900 KRT5  keratin 5
Epidermolysis bullosa simplex, Koebner type 131900 KRT14  keratin 14
Epidermolysis bullosa simplex, Ogna type 131950 PLEC plectin
Epidermolysis bullosa simplex, recessive 601001 KRT14  keratin 14
Epidermolysis bullosa simplex, Weber-Cockayne type 131800 KRT5  keratin 5
Epidermolysis bullosa simplex, Weber-Cockayne type 131800 KRT14  keratin 14
Epidermolysis bullosa, junctional, Herlitz type 226700 LAMB3  laminin, beta 3
Epidermolysis bullosa, junctional, non-Herlitz type 226650 ITGB4  integrin, beta 4
Epidermolysis bullosa, junctional, non-Herlitz type 226650 LAMB3  laminin, beta 3
Epidermolysis bullosa, junctional, with pyloric atresia 226730 ITGB4  integrin, beta 4
Epidermolysis bullosa, lethal acantholytic 609638 DSP  desmoplakin
Epidermolysis bullosa, pretibial 131850 COL7A1  collagen, type VII, alpha 1
Epilepsy      
Epilepsy, generalized, with febrile seizures plus, type 1 604233 SCN1B sodium channel, voltage-gated, type I, beta subunit
Epilepsy, generalized, with febrile seizures plus, type 7 613863 SCN9A  sodium channel, voltage-gated, type IX, alpha subunit
Epiphyseal      
Epiphyseal dysplasia, multiple, 6 614135 COL9A1  collagen, type IX, alpha 1
Epiphyseal dysplasia, multiple, with myopia and deafness 132450 COL2A1  collagen, type II, alpha 1
Erebrotendinous xanthomatosis 213700 CYP27A1  cytochrome P450, family 27, subfamily A, polypeptide 1
Erythermalgia, primary 133020 SCN9A  sodium channel, voltage-gated, type IX, alpha subunit
Erythremias, beta-   HBB  hemoglobin, beta
Erythrocytosis   HBA2  hemoglobin, alpha 2
Erythrocytosis, familial, 2 263400 VHL  von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Erythrokeratodermia variabilis et progressiva 133200 GJB3  gap junction protein, beta 3, 31kDa
Exostoses, multiple, type 1 133700 EXT1  exostosin glycosyltransferase 1
Powered by Create your own unique website with customizable templates.