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Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life


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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
Jackson-Weiss syndrome 123150 FGFR1  fibroblast growth factor receptor 1
Jervell and Lange-Nielsen syndrome      
Jervell and Lange-Nielsen syndrome 220400 KCNQ1  potassium voltage-gated channel, KQT-like subfamily, member 1
Jervell and Lange-Nielsen syndrome 2 612347 KCNE1  potassium voltage-gated channel, Isk-related family, member 1
Joubert syndrome 5 610188 CEP290  centrosomal protein 290kDa
Juvenile polyposis syndrome, infantile form 174900 BMPR1A bone morphogenetic protein receptor, type IA
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 SMAD4 SMAD family member 4
Keratitis      
Keratitis 148190 PAX6  paired box 6
Keratitis-ichthyosis-deafness syndrome 148210 GJB2  gap junction protein, beta 2, 26kDa
Keratoderma, palmoplantar, with deafness 148350 GJB2  gap junction protein, beta 2, 26kDa
Keratosis palmoplantaris striata II 612908 DSP  desmoplakin
Kniest dysplasia 156550 COL2A1  collagen, type II, alpha 1
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