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
Glycogen Storage Disease Type 0 GYS2 240600 12p12.2 Glycogen synthase-2 P54840 IPI00008867.1
Glycogen Storage Disease Ia G6PC 232200 17q21 glucose-6-phosphatase P35575 IPI00019500.1
Glycogen Storage Disease Ib G6PT1 602671 11q23 Glucose-6-phosphate translocase O43826 IPI00554454.1
Glycogen Storage Disease Ic G6PT1 602671 11q23 Glucose-6-phosphate translocase O43826 IPI00554454.1
Glycogen Storage Disease II GAA 606800 17q25.2-q25.3 acid alpha-1,4-glucosidase P10253 IPI00293088.4
Glycogen Storage Disease III AGL 232400 1p21 Glycogen debranching enzyme P35573 IPI00514126.1
Glycogen Storage Disease IV GBE1 607839 3p12.3 1,4-alpha-glucan branching enzyme Q04446 IPI00296635.4
Glycogen Storage Disease V PYGM 608455 11q12-q13.2 muscle glycogen phosphorylase P11217 IPI00218130.2
Glycogen Storage Disease VI PYGL 232700 11q13 liver glycogen phosphorylase P06737 IPI00470525.2
Glycogen Storage Disease VII PFKM 232800 12q13.3 muscle phosphofructokinase P08237 IPI00465179.1
Glycogen Storage Disease VIII PHKA2 306000 Xp22.2-p22.1 liver phosphorylase kinase alpha 2 P46019 IPI00004237.1
Galactosemias GALT 606999 9p13 galactose-1-phosphate uridylyltransferase P07902 IPI00013925.3
Fructose Intolerance ALDOB 229600 9q22.3 Fructose-bisphosphate aldolase B P05062 IPI00218407.5
Fructose-1,6-Diphosphatase Deficiency FBP1 229700 9q22.2-q22.3 Fructose-1,6-bisphosphatase 1 P09467 IPI00073772.4
Mucopolysaccharidoses IH IDUA 252800 4p16.3 alpha-L-iduronidase P35475 IPI00018879.1
Mucopolysaccharidoses IS IDUA 252800 4p16.3 alpha-L-iduronidase P35475 IPI00018879.1
Mucopolysaccharidoses IH/S IDUA 252800 4p16.3 alpha-L-iduronidase P35475 IPI00018879.1
Mucopolysaccharidoses II IDS 309900 Xq28 Iduronate 2-sulfatase P22304 IPI00026104.1
Mucopolysaccharidoses IIIA SGSH 605270 17q25.3 N-sulfoglucosamine sulfohydrolase P51688 IPI00019988.1
Mucopolysaccharidoses IIIB NAGLU 252920 17q21 N-alpha-acetylglucosaminidase P54802 IPI00008787.3
Mucopolysaccharidoses IIIC MPS3C 252930 8p11-q13 alpha-glucosaminide N-acetyltransferase
Mucopolysaccharidoses IIID GNS 607664 12q14 N-acetylglucosamine-6-sulfatase P15586 IPI00012102.1
Mucopolysaccharidoses IVA GALNS 253000 16q24.3 N-acetylgalactosamine-6-sulfatase P34059 IPI00029605.1
Mucopolysaccharidoses IVB GLB1 230500 3p21.33 Beta-galactosidase P16278 IPI00441344.1
Mucopolysaccharidoses VI ARSB 253200 5q11-q13 Arylsulfatase B P15848 IPI00306576.1
Mucopolysaccharidoses VII GUSB 253220 7q21.11 beta-glucuronidase P08236 IPI00219516.1
Hypercholesterolemia, Familial Autosomal Recessive ARH 605747 1p36-p35 Autosomal recessive hypercholesterolemia protein Q5SW96 IPI00004758.3
Hypercholesterolemia, Familial Autosomal Dominant APOB 107730 2p24 Apolipoprotein B-100 P04114 IPI00022229.1
Hypercholesterolemia, Familial Autosomal Dominant APOA2 107670 1q21-q23 Apolipoprotein A-II P02652 IPI00021854.1
Hypercholesterolemia, Familial Autosomal Dominant LPL 609708 8p22 Lipoprotein lipase P06858 IPI00027847.3
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