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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
Danon disease 300257 LAMP2  lysosomal-associated membrane protein 2
Darier disease 124200 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Deafness      
Deafness, autosomal dominant 11 601317 MYO7A  myosin VIIA
Deafness, autosomal dominant 13 601868 COL11A2  collagen, type XI, alpha 2
Deafness, autosomal dominant 23 605192 SIX1  SIX homeobox 1
Deafness, autosomal dominant 2A 600101 KCNQ4  potassium voltage-gated channel, KQT-like subfamily, member 4
Deafness, autosomal dominant 2B 612644 GJB3  gap junction protein, beta 3, 31kDa
Deafness, autosomal dominant 3A 601544 GJB2  gap junction protein, beta 2, 26kDa
Deafness, autosomal dominant 3B 612643 GJB6  gap junction protein, beta 6, 30kDa
Deafness, autosomal dominant, with peripheral neuropathy   GJB3  gap junction protein, beta 3, 31kDa
Deafness, autosomal recessive   GJB3  gap junction protein, beta 3, 31kDa
Deafness, autosomal recessive 12 601386 CDH23 cadherin-related 23
Deafness, autosomal recessive 18A 602092 USH1C  Usher syndrome 1C (autosomal recessive, severe)
Deafness, autosomal recessive 1A 220290 GJB2  gap junction protein, beta 2, 26kDa
Deafness, autosomal recessive 1B 612645 GJB6  gap junction protein, beta 6, 30kDa
Deafness, autosomal recessive 2 600060 MYO7A  myosin VIIA
Deafness, autosomal recessive 23 609533 PCDH15  protocadherin-related 15
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 SLC26A4  solute carrier family 26, member 4
Deafness, autosomal recessive 53 609706 COL11A2  collagen, type XI, alpha 2
Deafness, congenital heart defects, and posterior embryotoxon   JAG1  jagged 1
Deafness, digenic GJB2/GJB6 220290 GJB6  gap junction protein, beta 6, 30kDa
Deafness, digenic, GJB2/GJB3 220290 GJB3  gap junction protein, beta 3, 31kDa
Deep venous thrombosis, protection against 300807 F9  coagulation factor IX
Dejerine-Sottas disease      
Dejerine-Sottas disease 145900 PMP22  peripheral myelin protein 22
Dejerine-Sottas disease 145900 MPZ  myelin protein zero
Delta-beta thalassemia 141749 HBB  hemoglobin, beta
Dementia      
Dementia, frontotemporal 600274 PSEN1  presenilin 1
Dementia, frontotemporal, with or without parkinsonism 600274 MAPT  microtubule-associated protein tau
Dementia, Lewy body 127750 SNCA  synuclein, alpha (non A4 component of amyloid precursor)
Dent disease 2 300555 OCRL  oculocerebrorenal syndrome of Lowe
Denys-Drash syndrome 194080 WT1 Wilms tumor 1
Dermatopathia pigmentosa reticularis 125595 KRT14  keratin 14
Desmoid disease, hereditary 135290 APC  adenomatous polyposis coli
Diamond-Blackfan      
Diamond-Blackfan anemia 1 105650 RPS19  ribosomal protein S19
Diamond-Blackfan anemia 10 613309 RPS26  ribosomal protein S26
Diamond-blackfan anemia 3 610629 RPS24 ribosomal protein S24
Diamond-Blackfan anemia 5 612528 RPL35A  ribosomal protein L35a
Diamond-Blackfan anemia 7 612562 RPL11  ribosomal protein L11
Diamond-Blackfan anemia 8 612563 RPS7  ribosomal protein S7
Diamond-Blackfan anemia 9 613308 RPS10  ribosomal protein S10
Dihydrolipoamide dehydrogenase deficiency 246900 DLD  dihydrolipoamide dehydrogenase
Dilated cardiomyopathy with woolly hair and keratoderma 605676 DSP  desmoplakin
Double Cortex Syndrome   DCX  doublecortin
Dowling-Degos disease 179850 KRT5  keratin 5
Dravet syndrome, modifier of 607208 SCN9A  sodium channel, voltage-gated, type IX, alpha subunit
Du Pan syndrome 228900 GDF5  growth differentiation factor 5
Duane-radial ray syndrome 607323 SALL4  sal-like 4 (Drosophila)
Duchenne muscular dystrophy 310200 DMD  dystrophin
Dysautonomia, familial 223900 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Dyskeratosis congenita, X-linked 305000 DKC1  dyskeratosis congenita 1, dyskerin
Dystonia-Parkinsonism, X-linked 314250 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
Dystransthyretinemic hyperthyroxinemia 145680 TTR  transthyretin
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