Liverbase v1.0
LiverbasePROTEOMESKY-LIVERHu1.0
 Database for liver-related genes , proteins and diseases
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LDGP
Liver GO slim
Disease Type1 Type2 Gene OMIM_No. Locus Protein Acc.No. IPI
Hypercholesterolemia, Familial Autosomal Dominant EPHX2 132811 8p21-p12 Epoxide hydrolase 2 P34913 IPI00104341.3
Hypercholesterolemia, Familial Autosomal Dominant LDLR 606945 3p21.2-p14.1 Low density lipoprotein receptor P01130 IPI00000070.1
Hypercholesterolemia, Familial Autosomal Dominant, 3 PCSK9 607786 1p34.1-p32 proprotein convertase subtilisin/kexin type 9 Q8NBP7 IPI00515121.2
Niemann-Pick Diseases A SMPD1 607608 11p15.4-p15.1 Sphingomyelin phosphodiesterase P17405 IPI00555845.1
Niemann-Pick Diseases B SMPD1 607608 11p15.4-p15.1 Sphingomyelin phosphodiesterase P17405 IPI00555845.1
Niemann-Pick Diseases C1 NPC1 607107 18q11-q12 Niemann-Pick C1 protein O15118 IPI00005107.1
Niemann-Pick Diseases C2 NPC2 601015 14q24.3 Epididymal secretory protein P61916 IPI00301579.3
Gaucher Disease I GBA 606463 1q21 acid-beta glucosidase P04062 IPI00021807.2
Gaucher Disease II GBA 606463 1q21 acid beta-glucosidase P04062 IPI00021807.2
Gaucher Disease III GBA 606463 1q21 acid beta-glucosidase P04062 IPI00021807.2
Wolman Disease LIPA 278000 10q24-q25 Lysosomal acid lipase P38571 IPI00007207.1
Gangliosidosis GM1 I GLB1 230500 3p21.33 beta-1 galactosidase P16278 IPI00441344.1
Gangliosidosis GM1 II?¨JUVENILE?? GLB1 230500 3p21.33 beta-1 galactosidase P16278 IPI00441344.1
Gangliosidosis GM1 III?¨ADULT?? GLB1 230500 3p21.33 beta-1 galactosidase P16278 IPI00441344.1
Gangliosidosis GM2 I HEXA 606869 15q23-q24 alpha polypeptide hexosaminidase A P06865 IPI00027851.1
Gangliosidosis GM2 II HEXB 606873 5q13 beta polypeptide hexosaminidase B P07686 IPI00012585.1
Tyrosinemias I FAH 276700 15q23-q25 Fumarylacetoacetase P16930 IPI00031708.1
Tyrosinemias II TAT 276600 16q22.1-q22.3 Tyrosine aminotransferase P17735 IPI00016764.1
Tyrosinemias III HPD 609695 12q24-qter 4-hydroxyphenylpyruvate dioxygenase ? P32754 IPI00218297.9
Hyperammonemia OTC 300461 Xp21.1 ornithine carbamoyltransferase P00480 IPI00295363.1
Hyperammonemia CPS1 608307 2q35 carbamoyl phosphate synthetase I P31327 IPI00011062.1
alpha 1-Antitrypsin Deficiency PI 107400 14q32.1 alpha 1-Antitrypsin P01009 IPI00553177.1
Hepatolenticular Degeneration ATP7B 606882 13q14.3-q21.1 Copper-transporting ATPase 2 P35670 IPI00515019.1
Hemochromatosis 1(Classic hemochromatosis) HFE 235200 6p21.3 Hereditary hemochromatosis protein Q30201
Hemochromatosis 2(Juvenile hemochromatosis) HAMP 606464 19q13 Hepcidin antimicrobial peptide P81172 IPI00025992.1
Hemochromatosis 2(Juvenile hemochromatosis) HFE2A 608374 1q21 Hemojuvelin Q6ZVN8 IPI00419814.1
Hemochromatosis 3 TFR2 604720 7q22 transferrin receptor-2 Q9UP52 IPI00219901.2
Hemochromatosis 4 SLC40A1 604653 2q32 Solute carrier family 40 member 1 Q9NP59 IPI00005547.2
Porphyria, Acute Intermittent HMBS 609806 11q23.3 hydroxymethylbilane synthase P08397 IPI00028160.1
Porphyria Cutanea Tarda UROD 176100 1p34 Uroporphyrinogen decarboxylase P06132 IPI00301489.3
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