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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
Pancreatic cancer      
Pancreatic cancer   SMAD4 SMAD family member 4
Pancreatic cancer 260350 TP53  tumor protein p53
Pancreatitis, idiopathic 167800 CFTR  cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Parkinson      
Parkinson disease 1 168601 SNCA  synuclein, alpha (non A4 component of amyloid precursor)
Parkinson disease 15, autosomal recessive 260300 FBXO7  F-box protein 7
Parkinson disease 4 605543 SNCA  synuclein, alpha (non A4 component of amyloid precursor)
Parkinson disease 6, early onset 605909 PINK1  PTEN induced putative kinase 1
Parkinson disease 8 607060 LRRK2  leucine-rich repeat kinase 2
Parkinson disease, late-onset, susceptibility to 168600 GBA  glucosidase, beta, acid
Parkinson disease, susceptibility to 168600 MAPT  microtubule-associated protein tau
Paroxysmal extreme pain disorder 167400 SCN9A  sodium channel, voltage-gated, type IX, alpha subunit
Pendred syndrome 274600 SLC26A4  solute carrier family 26, member 4
Peroxisome      
Peroxisome biogenesis disorder 10A (Zellweger) 614882 PEX3  peroxisomal biogenesis factor 3
Peroxisome biogenesis disorder 11A (Zellweger) 614883 PEX13  peroxisomal biogenesis factor 13
Peroxisome biogenesis disorder 11B 614885 PEX13  peroxisomal biogenesis factor 13
Peroxisome biogenesis disorder 12A (Zellweger) 614886 PEX19 peroxisomal biogenesis factor 19
Peroxisome biogenesis disorder 13A (Zellweger) 614887 PEX14  peroxisomal biogenesis factor 14
Peroxisome biogenesis disorder 1A (Zellweger) 214100 PEX1  peroxisomal biogenesis factor 1
Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 PEX1  peroxisomal biogenesis factor 1
Peroxisome biogenesis disorder 2A (Zellweger) 214110 PEX5  peroxisomal biogenesis factor 5
Peroxisome biogenesis disorder 2B 202370 PEX5  peroxisomal biogenesis factor 5
Peroxisome biogenesis disorder 6A (Zellweger) 614870 PEX10  peroxisomal biogenesis factor 10
Peroxisome biogenesis disorder 6B 614871 PEX10  peroxisomal biogenesis factor 10
Peroxisome biogenesis disorder 7A (Zellweger) 614872 PEX26  peroxisomal biogenesis factor 26
Peroxisome biogenesis disorder 7B 614873 PEX26  peroxisomal biogenesis factor 26
Peters anomaly 604229 PAX6  paired box 6
Pfeiffer syndrome 101600 FGFR1  fibroblast growth factor receptor 1
Phenylketonuria 261600 PAH  phenylalanine hydroxylase
Pheochromocytoma      
Pheochromocytoma 171300 RET  ret proto-oncogene
Pheochromocytoma 171300 VHL  von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Pick disease      
Pick disease 172700 PSEN1  presenilin 1
Pick disease 172700 MAPT  microtubule-associated protein tau
Pigmented paravenous chorioretinal atrophy 172870 CRB1  crumbs homolog 1 (Drosophila)
Platyspondylic skeletal dysplasia, Torrance type 151210 COL2A1  collagen, type II, alpha 1
Polycystic kidney disease      
Polycystic kidney and hepatic disease 263200 PKHD1  polycystic kidney and hepatic disease 1 (autosomal recessive)
Polycystic kidney disease 2 613095 PKD2 polycystic kidney disease 2 (autosomal dominant)
Polycystic kidney disease, adult type I 173900 PKD1 polycystic kidney disease 1 (autosomal dominant)
Polyglucosan body disease, adult form 263570 GBE1  glucan (1,4-alpha-), branching enzyme 1
Polyposis syndrome      
Polyposis syndrome, hereditary mixed, 2 610069 BMPR1A bone morphogenetic protein receptor, type IA
Polyposis, juvenile intestinal 174900 BMPR1A bone morphogenetic protein receptor, type IA
Polyposis, juvenile intestinal 174900 SMAD4 SMAD family member 4
Pompe Disease-Glycogen storage disease II 232300 GAA glucosidase, alpha; acid
Porencephaly 1 175780 COL4A1  collagen, type IV, alpha 1
Porphyria cutanea tarda, susceptibility to 176100 HFE  hemochromatosis
Porphyria variegata, susceptibility to 176200 HFE  hemochromatosis
Porphyria, acute intermittent 176000 HMBS  hydroxymethylbilane synthase
Porphyria, acute intermittent, nonerythroid variant 176000 HMBS  hydroxymethylbilane synthase
Premature ovarian failure 3 608996 FOXL2 forkhead box L2
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 609283 SLC25A4  solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
Progressive external ophthalmoplegia, autosomal dominant 157640 POLG polymerase (DNA directed), gamma
Progressive external ophthalmoplegia, autosomal recessive 258450 POLG polymerase (DNA directed), gamma
Prostate cancer, familial, susceptibility to 176807 CHEK2  checkpoint kinase 2
Pulmonary disease, chronic obstructive, susceptibility to 606963 SERPINA1  serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

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