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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
Heart block, nonprogressive 113900 SCN5A sodium channel, voltage-gated, type V, alpha subunit
Heart block, progressive, type IA 113900 SCN5A sodium channel, voltage-gated, type V, alpha subunit
Heart-hand syndrome, Slovenian type 610140 LMNA  lamin A/C
Heinz body      
Heinz body anemia 140700 HBA2  hemoglobin, alpha 2
Heinz body anemias, beta- 140700 HBB  hemoglobin, beta
Hemangioblastoma, cerebellar, somatic   VHL  von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Hemochromatosis 235200 HFE  hemochromatosis
Hemoglobin H disease, nondeletional 613978 HBA2  hemoglobin, alpha 2
Hemophilia      
Hemophilia A 306700 F8  coagulation factor VIII, procoagulant component
Hemophilia B 306900 F9  coagulation factor IX
Hemorrhage, intracerebral, susceptibility to 614519 COL4A1  collagen, type IV, alpha 1
Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh 613490 SERPINA1  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Hepatoblastoma, somatic 114550 APC  adenomatous polyposis coli
Hepatocellular carcinoma 114550 TP53  tumor protein p53
Hereditary motor and sensory neuropathy VI 601152 MFN2  mitofusin 2
Hereditary persistence of fetal hemoglobin 141749 HBB  hemoglobin, beta
Hex A pseudodeficiency 272800 HEXA  hexosaminidase A (alpha polypeptide)
Hirschsprung disease, susceptibility to, 1 142623 RET  ret proto-oncogene
Holoprosencephaly-7 610828 PTCH1  patched 1
Holt-Oram syndrome 142900 TBX5  T-box 5
Hoyeraal-Hreidarsson syndrome 300240 DKC1  dyskeratosis congenita 1, dyskerin
Hutchinson-Gilford progeria 176670 LMNA  lamin A/C
Hydrocephalus due to aqueductal stenosis 307000 L1CAM  L1 cell adhesion molecule
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000 L1CAM  L1 cell adhesion molecule
Hydrocephalus with Hirschsprung disease 307000 L1CAM  L1 cell adhesion molecule
Hyperphenylalaninemia, non-PKU mild 261600 PAH  phenylalanine hydroxylase
Hypertrichotic osteochondrodysplasia 239850 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Hypertrypsinemia, neonatal   CFTR  cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Hypochondroplasia 146000 FGFR3  fibroblast growth factor receptor 3
Hypochromic microcytic anemia   HBA2  hemoglobin, alpha 2
Hypogonadotropic hypogonadism      
Hypogonadotropic hypogonadism 2 with or without anosmia 147950 FGFR1  fibroblast growth factor receptor 1
Hypogonadotropic hypogonadism 5 with or without anosmia 612370 CHD7  chromodomain helicase DNA binding protein 7
Hypophosphatasia, adult 146300 ALPL  alkaline phosphatase, liver/bone/kidney
Hypophosphatasia, childhood 241510 ALPL  alkaline phosphatase, liver/bone/kidney
Hypophosphatasia, infantile 241500 ALPL  alkaline phosphatase, liver/bone/kidney
Hypoplastic left heart syndrome 2 614435 NKX2-5  NK2 homeobox 5
Hypothyroidism, congenital nongoitrous, 5 225250 NKX2-5  NK2 homeobox 5
Hypotrichosis, hereditary, Marie Unna type, 1 146550 HR hair growth associated
Hystrix-like ichthyosis with deafness 602540 GJB2  gap junction protein, beta 2, 26kDa
Inclusion body myopathy, autosomal recessive 600737 GNE  glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Insensitivity to pain, channelopathy-associated 243000 SCN9A  sodium channel, voltage-gated, type IX, alpha subunit
IVIC syndrome 147750 SALL4  sal-like 4 (Drosophila)
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