Table 1.
Disease-related proteins in human urinary exosomesa
Gene | Protein Name | Pep | ID | Related to Disease [OMIM] |
---|---|---|---|---|
ABCB1 | ATP-binding cassette subfamily B, member 1 | 23 | 61 | Colchicine resistance [MIM: 120080] Crohn disease [MIM: 266600] |
ABCC9 | ATP-binding cassette, subfamily C, member 9 isoform SUR2A-δ-14 | 1 | 2 | Cardiomyopathy [MIM: 608569] |
ABCB11 | ATP-binding cassette, subfamily B (MDR/TAP), member 11 | 1 | 3 | Cholestasis, progressive familial intrahepatic 2 [MIM: 601847] |
Cholestasis, benign recurrent intrahepatic 2 [MIM: 605479] | ||||
ACAT1 | Acetyl-CoA acetyltransferase 1 precursor | 1 | 2 | α-Methylacetoacetic aciduria [MIM: 203750] |
ACE | Angiotensin I–converting enzyme isoform 1 precursor | 23 | 96 | Hypertension [MIM: 106180] |
ACE | Angiotensin I–converting enzyme isoform 2 precurs | 12 | 61 | Renal tubular dysgenesis [267430] |
ACE2 | Angiotensin I–converting enzyme 2 precursor | 8 | 17 | Hypertension [MIM: 300335] |
ACOT7 | Acyl-CoA thioesterase 7 isoform hBACHd | 1 | 1 | Mesial temporal lobe epilepsy [MIM: 608096] |
ACSL4 | Acyl-CoA synthetase long-chain family member 4 isoform 2 | 1 | 2 | Mental retardation, X-linked 63, MRX 63 [MIM: 300387] |
ACY1 | Aminoacylase 1 | 15 | 43 | Aminoacylase 1 deficiency [MIM: 609924] |
AHCY | S-adenosylhomocysteine hydrolase | 10 | 28 | Hypermethioninemia [MIM: 180960] |
AK1 | Adenylate kinase 1 | 4 | 4 | Hemolytic anemia due to AK1 deficiency [MIM: 103000] |
ALAD | δ-Aminolevulinic acid dehydratase isoform a | 1 | 1 | Acute hepatic porphyria [MIM: 125270] |
ALB | Albumin precursor | 36 | 139 | Dysalbuminemic hyperthyroxinemia Hyperthyroxinemia, dysalbuminemic analbuminemia bisalbuminemia [MIM: 103600] |
ALDOA | Aldolase A | 7 | 14 | Aldolase deficiency of red cells Myopathy and hemolytic anemia [MIM: 103850] |
ALPL | Tissue nonspecific alkaline phosphatase precursor | 3 | 4 | Hypophostasia [MIM: 241500] |
AMN | Amnionless protein precursor | 1 | 1 | Megaloblastic anemia 1 [MIM: 261100] |
ANPEP | Membrane alanine aminopeptidase precursor | 69 | 412 | Hypertension [MIM: 151530] |
APOA1 | Apolipoprotein A-I preproprotein | 6 | 17 | Primary hypoalphalipoproteinemia [MIM: 604091] |
APOA2 | Apolipoprotein A-II preproprotein | 1 | 1 | Apolipoprotein A-II deficiency, familial |
Hypercholesterolemia, familial [MIM: 143890] | ||||
APRT | Adenine phosphoribosyltransferase isoform a | 2 | 2 | 2,8-Dihydroxyadenine urolithiasis [MIM: 102600] |
APRT | Adenine phosphoribosyltransferase isoform b | 3 | 10 | 2,8-Dihydroxyadenine urolithiasis [MIM: 102600] |
AQP1 | Aquaporin 1 | 3 | 35 | Aquaporin 1 deficiency, Colton-Null [MIM: 110450] |
AQP2 | Aquaporin 2 | 7 | 36 | Autosomal recessive nephrogenic diabetes insipidus, type 1 [MIM: 222000]Autosomal dominant nephrogenic diabetes insipidus, type 1 [MIM: 125800] |
ARL6 | ADP-ribosylation factor–like 6 | 4 | 7 | Bardet-Biedl syndrome 3 [MIM: 209900] |
ARSE | Arylsulfatase E precursor | 1 | 2 | Chondrodysplasia punctata 1, X-linked recessive [MIM: 302950] |
ASAH1 | N-acylsphingosine amidohydrolase (acid ceramidase) 1 preproprotein isoform a | 7 | 16 | Farber disease [MIM: 228000] |
ASAH1 | N-acylsphingosine amidohydrolase (acid ceramidase) 1 isoform b | 9 | 34 | Farber disease [MIM: 228000] |
ASL | Argininosuccinate lyase isoform 3 | 1 | 1 | Argoninosuccinic aciduria [MIM: 207900] |
ASS1 | Argininosuccinate synthetase 1 | 20 | 59 | Citrullinemia [MIM: 215700] |
ATIC | 5-Aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | 1 | 1 | Aica-ribosiduria due to ATIC deficiency [MIM: 608688] |
ATP6V0A4 | ATPase, H+ transporting, lysosomal V0 subunit a4 | 1 | 2 | Renal tubular acidosis, distal, autosomal recessive [MIM: 602722] |
ATP6V1B1 | ATPase, H+ transporting, lysosomal 56/58-kD, V1 subunit B1 | 8 | 17 | Renal tubular acidosis, distal, with progressive deafness [MIM: 267300] |
B2M | β2-Microglobulin precursor | 1 | 1 | Hypercatabolic hypoproteinemia [MIM: 241600] |
B4GALT1 | UDP-Gal:βGlcNAc β 1,4- galactosyltransferase 1, membrane-bound form | 1 | 1 | Congenital disorder of glycosylation type IId [MIM: 607091] |
CA2 | Carbonic anhydrase II | 9 | 25 | Autosomal recessive syndrome of osteopetrosis with renal tubular acidosis [MIM: 259730] |
CA4 | Carbonic anhydrase IV precursor | 2 | 2 | Proximal renal tubular acidosis [MIM: 114760] |
CC2D1A | Coiled-coil and C2 domain containing 1A | 6 | 6 | Mental retardation autosomal recessive 3 [MIM: 608443] |
CD2AP | CD2-associated protein | 14 | 21 | Focal segmental glomerulosclerosis FSGS3 [MIM: 607832] |
CETP | Cholesteryl ester transfer protein, plasma precursor | 7 | 14 | Cholesterol ester transfer protein deficiency [MIM: 607322] |
CFH | Complement factor H isoform b precursor | 1 | 1 | Hemolytic uremic syndrome, atypical [MIM: 235400] |
CFI | Complement factor I | 1 | 1 | Complement factor I deficiency [MIM: 610984] |
CHMP2B | Chromatin modifying protein 2B | 4 | 15 | Frontotemporal dementia, chromosome 3-linked [MIM: 6000795] |
CLTC | Clathrin heavy chain 1 | 12 | 24 | Renal cell carcinoma [MIM: 118955] |
COL18A1 | α 1 type XVIII collagen isoform 1 precursor | 1 | 1 | Knobloch syndrome [MIM: 267750] |
COL6A1 | Collagen, type VI, α 1 precursor | 6 | 21 | Bethlem myopathy [MIM: 158810] Ullrich congenital muscular dystrophy, autosomal dominant [MIM: 254090] |
COL6A3 | α 3 type VI collagen isoform 5 precursor | 1 | 2 | Ullrich congenital muscular dystrophy [MIM: 254090] |
CP | Ceruloplasmin precursor | 6 | 15 | Aceruloplasminemia [MIM: 604290] |
CRYAB | Crystallin, α B | 7 | 12 | α-B crystallinopathy [MIM: 608810] |
CRYM | Crystallin, μ isoform 1 | 1 | 3 | Autosomal dominant nonsyndromic deafness [MIM: 123740] |
CST3 | Cystatin C precursor | 1 | 3 | Icelandic-type cerebroarterial amyloidosis [MIM: 105150] |
CSTB | Cystatin B | 2 | 10 | Myoclonic epilepsy of Unverricht and Lundborg [MIM: 254800] |
CTSC | Cathepsin C isoform b precursor | 1 | 1 | Papillo-LeFevre syndrome [MIM: 245000] |
CTH | Cystathionase isoform 2 | 1 | 1 | Cystathioninuria [MIM: 219500] |
CTSA | Cathepsin A precursor | 3 | 15 | Galactosialidosis [MIM: 256540] |
CTSC | Cathepsin C isoform a preproprotein | 1 | 2 | Papillon-Lefevre syndrome [MIM: 245000] |
CTSD | Cathepsin D preproprotein | 1 | 2 | Neuronal ceroid lipofuscinosis [MIM: 610127] |
CTNS | Cystinosis, nephropathic isoform 1 | 1 | 3 | Nephropathic cystinosis [MIM: 219800] |
CUBN | Cubilin | 104 | 672 | Megaloblastic anemia 1, Finnish type [MIM: 261100] |
CUL4B | Cullin 4B | 1 | 1 | Cabezas syndrome [MIM: 300354] |
Mental retardation-hypotonic facies syndrome [MIM: 300639] | ||||
DDAH1 | Dimethylarginine dimethylaminohydrolase 1 | 1 | 5 | Hypertension [MIM: 604743] |
DDC | Dopa decarboxylase (aromatic l-amino acid decarboxylase) | 11 | 31 | Aromatic L-amino acid decarboxylase deficiency [MIM: 608643] |
DNM2 | Dynamin 2 isoform 3 | 1 | 1 | Charcot-Marie-Tooth disease, |
Dominant intermediate B [MIM: 606482] | ||||
DNM2 | Dynamin 2 isoform 4 | 1 | 1 | Charcot-Marie-Tooth neuropathy, |
Dominant intermediate B [MIM: 606482] | ||||
DYSF | Dysferlin | 1 | 1 | Miyoshi myopathy [MIM: 254130] |
DPYS | Dihydropyrimidinase | 5 | 6 | Dihydropyrimidinuria [MIM: 222748] |
DSC2 | Desmocollin 2 isoform Dsc2b preproprotein | 1 | 3 | Arrhythmogenic right ventricular dysplasia-11 [MIM: 610476] |
DSP | Desmoplakin isoform II | 10 | 16 | Keratosis palmoplantaris striata II dilated cardiomyopathy with woolly hair and keratoderma [MIM: 605676] |
ECE1 | Endothelin-converting enzyme 1 | 1 | 1 | Hirschsprung disease [MIM: 142623] |
EFEMP1 | EGF-containing fibulin–like extracellular matrix protein 1 precursor | 1 | 3 | Doyne Honeycomb retinal dystrophy [MIM: 126600] |
ELA2 | Elastase 2, neutrophil preproprotein | 1 | 1 | Cyclic hematopoiesis [MIM: 162800] |
ENPEP | Glutamyl aminopeptidase (aminopeptidase A) | 25 | 100 | Hypertension [MIM: 138297] |
FAH | Fumarylacetoacetate hydrolase (fumarylacetoacetase) | 2 | 2 | Tyrosinemia type I [MIM: 276700] |
FLNB | Filamin B, β (actin-binding protein 278) | 1 | 1 | Spondylocarpotarsal synostosis syndrome [MIM: 272460] |
FBP1 | Fructose-1,6-bisphosphatase 1 | 7 | 16 | Fructose-1,6-bisphosphatase deficiency [MIM: 229700] |
FGA | Fibrinogen, α polypeptide isoform α-E preproprotein | 5 | 17 | Renal amyloidosis [MIM: 105200] Dysfibrinogenemia [MIM: 134820] |
FGG | Fibrinogen, γ chain isoform γ-A precursor | 1 | 1 | Dysfibrinogenemia[MIM: 134850] |
FTCD | Formiminotransferase cyclodeaminase | 4 | 7 | Glutamate formiminotransferase deficiency [MIM: 229100] |
FTH1 | Ferritin, heavy polypeptide 1 | 1 | 7 | Iron overload, autosomal dominant [MIM: 134770] |
FTL | Ferritin, light polypeptide | 5 | 14 | Hyperferritinemia-cataract syndrome [MIM: 600886] |
FUCA1 | Fucosidase, α-L-1, tissue | 1 | 1 | Fucosidosis [MIM: 230000] |
FXYD2 | FXYD domain–containing ion transport regulator 2 isoform 1 | 1 | 7 | Hypomagnesemia 2, renal [MIM: 154020] |
G6PD | Glucose-6-phosphate dehydrogenase isoform a | 1 | 1 | Nonspherocytic hemolytic anemia due to G6PD deficiency [MIM: 305900] |
GAA | Acid α-glucosidase preproprotein | 4 | 8 | Infantile-onset glycogen storage disease Type II [MIM: 232300] |
GALK1 | Galactokinase 1 | 1 | 1 | Galactokinase deficiency [MIM: 230200] |
GBE1 | Glucan (1,4-α-), branching enzyme 1 | 1 | 2 | Type IV glycogen storage disease [MIM: 232500] |
GCS1 | Mannosyl-oligosaccharide glucosidase | 1 | 1 | Congenital disorder of glycosylation [MIM: 606056] |
GK | Glycerol kinase isoform a | 1 | 1 | Glycerol kinase deficiency [MIM: 307030] |
GLB1 | Galactosidase, β 1 isoform a | 16 | 70 | Gangliosidosis GM1 [MIM: 230500] |
GLUL | Glutamine synthetase | 2 | 2 | Congenital glutamine deficiency [MIM: 610015] |
GM2A | GM2 ganglioside activator precursor | 2 | 3 | Gangliosidosis GM2 AB variant Tay-Sachs disease [MIM: 272750] |
GPI | Glucose phosphate isomerase | 9 | 19 | Chronic hemolytic anemia duet to GPI deficiency [MIM: 172400] |
GPR98 | G protein–coupled receptor 98 precursor | 1 | 1 | Familial febrile seizures [MIM: 604352] Usher syndrome type IIC [MIM: 605472] |
GSN | Gelsolin isoform b | 10 | 21 | Finnish type familial amyloidosis [MIM: 105120] |
GSS | Glutathione synthetase | 1 | 3 | Glutathione synthetase deficiency [MIM: 266130] |
HNMT | Histamine N-methyltransferase isoform 1 | 1 | 1 | Susceptibility to asthma [MIM: 600807] |
HPD | 4-Hydroxyphenylpyruvate dioxygenase | 1 | 1 | Tyrosinemia type III [MIM: 276710] |
HPGD | Hydroxyprostaglandin dehydrogenase 15-(NAD) | 6 | 21 | Hypertension [MIM: 601688] |
HSPG2 | Heparan sulfate proteoglycan 2 | 18 | 41 | Schwartz-Jampel syndrome type 1 [MIM: 255800] |
HSPB1 | Heat-shock 27-kD protein 1 | 8 | 30 | Charcot-Marie-Tooth disease, type 2F [MIM: 606595] Distal hereditary motor neuropathy IIB [MIM: 608634] |
ICAM1 | Intercellular adhesion molecule 1 precursor | 1 | 1 | Graves disease [MIM: 275000] |
IL1RN | Interleukin 1 receptor antagonist isoform 1 precursor | 2 | 2 | Gastric cancer risk [MIM: 137215] |
IRF6 | Interferon regulatory factor 6 | 1 | 1 | Van der Woude syndrome [MIM: 119300] Popliteal pterygium syndrome [MIM: 119500] |
ITM2B | Integral membrane protein 2B | 5 | 21 | Familial dementia [MIM: 176500] |
JUP | Junction plakoglobin | 9 | 15 | Naxos disease [MIM: 601214] |
KALRN | Kalirin, RhoGEF kinase isoform 3 | 1 | 1 | Coronary heart disease [MIM: 608901] |
KHK | Ketohexokinase isoform a | 2 | 4 | Essential fructosuria [MIM: 229800] |
KL | Klotho | 1 | 1 | Hyperphosphatemic tumoral calcinosis [MIM: 211900] |
KLK1 | Kallikrein 1 preproprotein | 1 | 1 | Decreased urinary activity of kallikrein [MIM: 147910] |
LGALS3 | Galectin 3 | 1 | 1 | Lymphocyte function–associated antigen 1 [MIM: 116920] |
LAMP2 | Lysosomal-associated membrane protein 2 precursor | 4 | 26 | Danon disease [MIM: 300257] |
LRRK2 | Leucine-rich repeat kinase 2 | 4 | 5 | Parkinson disease [MIM: 607060] |
LYZ | Lysozyme precursor | 1 | 3 | Familial visceral amyloidosis [MIM: 105200] |
MIF | Macrophage migration inhibitory factor (glycosylation-inhibiting factor) | 1 | 6 | Rheumatoid arthritis [MIM: 604302] |
MME | Membrane metallo-endopeptidase neprilysin | 48 | 311 | HypertensionImportant cell surface marker in the diagnostic of human acute lymphocytic leukemia [MIM: 120520] |
MPO | Myeloperoxidase | 7 | 32 | Myeloperoxidase deficiency [MIM: 254600] |
MTHFD1 | Methylenetetrahydrofolate dehydrogenase 1 | 4 | 5 | Spina bifida [MIM: 601634] |
MYH14 | Myosin, heavy chain 14 isoform 1 | 1 | 1 | Autosomal dominant nonsyndromic sensorineural deafness [MIM: 600652] |
MYH3 | Myosin, heavy chain 3, skeletal muscle, embryonic | 1 | 1 | Freeman-Sheldon syndrome [MIM: 193700] |
MYH9 | Myosin, heavy polypeptide 9, nonmuscle | 19 | 51 | Fechtner syndrome [MIM: 153640]Epstein syndrome [MIM: 153650] |
MYO15A | Myosin XV | 1 | 3 | Recessive congenital deafness [MIM: 600316] |
MYO6 | Myosin VI | 7 | 21 | Autosomal recessive congenital sensorineural deafness [MIM: 607821] Autosomal dominant nonsyndromic sensorineural deafness [MIM: 606346] |
NAGLU | α-N-acetylglucosaminidase precursor | 21 | 63 | Mucopolysaccharidosis type IIIB [MIM: 252920] |
NDRG1 | N-myc downstream regulated gene 1 | 2 | 5 | Charcot-Marie-Tooth disease type 4D [MIM: 601455] |
NEB | Nebulin | 2 | 4 | Nemaline myopathy [MIM: 256030] |
NPHS2 | Podocin | 6 | 9 | Autosomal recessive steroid-resistant nephrotic syndrome [MIM: 600995] |
PAFAH1B1 | Platelet-activating factor acetylhydrolase, isoform Ib, α subunit (45 kD) | 1 | 1 | Miller-Dieker lissencephaly syndrome [MIM: 607432] |
PARK7 | DJ-1 protein | 1 | 1 | Parkinson disease 7, autosomal recessive [MIM: 606324] |
PCBD1 | Pterin-4 α-carbinolamine dehydratase precursor | 1 | 1 | Hyperphenylalaninemia [MIM: 264070] |
PDCD10 | Programmed cell death 10 | 2 | 3 | Cerebral cavernous malformations [MIM: 603285] |
PHGDH | Phosphoglycerate dehydrogenase | 2 | 2 | Phosphoglycerate dehydrogenase deficiency [MIM: 601815] |
PKD1 | Polycystin 1 | 1 | 1 | Polycystic kidney disease, adult, type I [MIM: 601313] |
PKD2 | Polycystin 2 | 1 | 2 | Polycystic kidney disease, adult, type II [MIM: 173910] |
PKHD1 | Polyductin isoform 2 | 6 | 9 | Autosomal recessive polycystic kidney disease [MIM: 263200] |
PKLR | Pyruvate kinase, liver, and RBC isoform 1 | 1 | 1 | Pyruvate kinase deficiency [MIM: 266200] |
PLOD1 | Lysyl hydroxylase precursor | 1 | 1 | Ehlers-Danlos syndrome, type VIA [MIM: 225400] |
PRKCH | Protein kinase C, η | 1 | 2 | Cerebral infarction [MIM: 601367] |
PROM1 | Prominin 1 | 23 | 174 | Autosomal recessive retinal degeneration [MIM: 604365] |
PRNP | Prion protein preproprotein | 1 | 1 | Creutzfeldt-Jakob disease [MIM: 123400] |
PSAP | Prosaposin isoform a preproprotein | 3 | 6 | Metachromatic leukodystrophy due to SAP1 deficiency [MIM: 249900] |
Gaucher disease, atypical due to SAP2 deficiency [MIM: 610539] | ||||
PSAP | Prosaposin isoform c preproprotein | 1 | 4 | Metachromatic leukodystrophy [MIM: 249900] |
PSAT1 | Phosphoserine aminotransferase isoform 1 | 2 | 4 | Phosphoserine aminotransferase deficiency [MIM: 610992] |
PTPRJ | Protein tyrosine phosphatase, receptor type, J precursor | 1 | 1 | Somatic colon cancer [MIM: 114500] |
RAB3GAP1 | RAB3 GTPase-activating protein | 1 | 1 | Warburg micro syndrome [MIM: 600118] |
RBP4 | Retinol-binding protein 4, plasma precursor | 2 | 3 | Retinol-binding protein deficiency [MIM: 180250] |
RDX | Radixin | 16 | 23 | Autosomal recessive deafness 24 [MIM: 611022] |
ROBO2 | Roundabout, axon guidance receptor, homolog 2 | 1 | 1 | Vesicoureteral reflux 2 [MIM: 610878] |
RP2 | XRP2 protein | 3 | 5 | X-linked retinitis pigmentosa 2 [MIM: 312600] |
RYR1 | Skeletal muscle ryanodine receptor isoform 1 | 1 | 1 | Malignant hyperthermia [MIM: 145600] Central core disease [MIM: 117000] Minicore myopathy with external ophthalmoplegia [MIM: 255320] |
SERPING1 | Complement component 1 inhibitor precursor | 7 | 14 | Hereditary angioedema type I [MIM: 106100] |
SLC3A1 | Solute carrier family 3, member 1 | 14 | 25 | Cystinuria [MIM: 220100] |
SLC4A1 | Solute carrier family 4, anion exchanger, member 1 [kAE1] | 2 | 2 | Defective kidney acid secretion leading to distal renal tubular acidosis [MIM: 179800] |
SLC4A4 | Solute carrier family 4, sodium bicarbonate co-transporter, member 4 [NBC1] | 2 | 3 | Renal tubular acidosis, proximal, with ocular abnormalities [MIM: 604278] |
SLC5A1 | Solute carrier family 5 (sodium/glucose co-transporter), member 1 [SGLT1] | 2 | 3 | Glucose/galactose malabsorption [MIM: 606824] |
SLC5A2 | Solute carrier family 5 (sodium/glucose co-transporter), member 2 [SGLT2] | 4 | 9 | Renal glucosuria [MIM: 233100] |
SLC6A19 | Solute carrier family 6, member 19 | 4 | 8 | Hartnup disorder [MIM: 234500] |
SLC12A1 | Sodium potassium chloride co-transporter 2 [NKCC2] | 25 | 94 | Bartter syndrome, antenatal, type 1 [MIM: 601678] |
SLC12A3 | Solute carrier family 12 (sodium/chloride transporters), member 3 [NCC] | 28 | 102 | Gitelman syndrome [MIM: 263800] |
SLC22A12 | Urate anion exchanger 1 isoform a [URAT1] | 1 | 2 | Renal hypouricemia [MIM: 220150] |
SLC25A3 | Solute carrier family 25 member 3 isoform b precursor | 1 | 5 | Mitochondrial phosphate carrier deficiency [MIM: 610773] |
SLC26A4 | Pendrin | 2 | 4 | Pendred syndrome [MIM: 274600]Deafness, autosomal recessive 4 [MIM: 600791] |
SLC44A4 | NG22 protein isoform 1 | 6 | 59 | Sialidosis 1 [MIM: 606107] |
SPR | Sepiapterin reductase (7,8-dihydrobiopterin:NADP + oxidoreductase) | 1 | 2 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency [MIM: 251120] |
SQSTM1 | Sequestosome 1 | 1 | 2 | Paget disease of bone [MIM: 602080] |
SUCLA2 | Succinate-CoA ligase, ADP-forming, β subunit | 1 | 1 | Mitochondrial DNA depletion syndrome [MIM: 609560] |
TECTA | Tectorin α precursor | 1 | 1 | Autosomal dominant nonsyndromic sensorineural hearing loss [MIM: 601842] |
TF | Transferrin | 12 | 20 | Alzheimer disease [MIM: 104300] |
TPP1 | Tripeptidyl-peptidase I preproprotein | 8 | 42 | Ceroid lipofuscinosis neuronal 2 [MIM: 204500] |
TSG101 | Tumor susceptibility gene 101 | 17 | 66 | Breast cancer [MIM: 176960] |
TTN | Titin isoform novex 1 | 4 | 5 | Cardiomyopathy [MIM: 188840] |
UMOD | Uromodulin precursor | 35 | 1278 | Medullary cystic kidney disease-2 (MCKD2) [MIM: 603860]Familial juvenile hyperuricemic nephropathy (FJHN) [MIM: 16200] |
VCP | Valosin-containing protein | 2 | 2 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia [MIM: 167320] |
VAMP7 | Vesicle-associated membrane protein 7 | 1 | 1 | β-Ureidopropionase deficiency [MIM: 606673] |
VCL | Vinculin isoform meta-VCL | 3 | 5 | Cardiomyopathy, dilated [MIM: 611407] |
VWF | Von Willebrand factor preproprotein | 1 | 4 | Von Willebrand disease [MIM: 193400] |
ZMPSTE24 | Zinc metalloproteinase STE24 | 1 | 1 | Mandibuloacral dysplasia [MIM: 608612] |
Information for each protein include “Gene” name, “Protein Name”, “Pep” refers to the number of unique peptides identified in LC-MS/MS, “ID” refers to the number of spectra and “Related to Disease [OMIM]” refers to the disease with which the protein is related according to OMIM. The 34 proteins associated with kidney diseases are presented in italics.