Proteins with multiple diseases (ICD10 classification)

UniProt ID UniProt name Gene # of diseases
P13569 Cystic fibrosis transmembrane conductance regulator CFTR ABCC7 4
Q93063 Exostosin-2 EXT2 3
P54886 Delta-1-pyrroline-5-carboxylate synthase ALDH18A1 GSAS P5CS PYCS 3
P43320 Beta-crystallin B2 CRYBB2 CRYB2 CRYB2A 3
Q16394 Exostosin-1 EXT1 3
O00142 Thymidine kinase 2, mitochondrial TK2 2
P28328 Peroxisome biogenesis factor 2 PEX2 PAF1 PMP3 PMP35 PXMP3 RNF72 2
Q9UDY2 Tight junction protein ZO-2 TJP2 X104 ZO2 3
Q9UPW5 Cytosolic carboxypeptidase 1 AGTPBP1 CCP1 KIAA1035 NNA1 2
Q9Y6K1 DNA (cytosine-5)-methyltransferase 3A DNMT3A 7
Q5TEU4 Arginine-hydroxylase NDUFAF5, mitochondrial NDUFAF5 C20orf7 4
Q9H334 Forkhead box protein P1 FOXP1 HSPC215 2
P40939 Trifunctional enzyme subunit alpha, mitochondrial HADHA HADH 3
P21675 Transcription initiation factor TFIID subunit 1 TAF1 BA2R CCG1 CCGS TAF2A 3
O95452 Gap junction beta-6 protein GJB6 4
P37058 17-beta-hydroxysteroid dehydrogenase type 3 HSD17B3 EDH17B3 SDR12C2 2
P15924 Desmoplakin DSP 4
Q15046 Lysine--tRNA ligase KARS1 KARS KIAA0070 4
P08253 72 kDa type IV collagenase MMP2 CLG4A 2
P50747 Biotin--protein ligase HLCS 2
Q6ZWL3 Cytochrome P450 4V2 CYP4V2 2
P48165 Gap junction alpha-8 protein GJA8 2
P12235 ADP/ATP translocase 1 SLC25A4 AAC1 ANT1 3
P19099 Cytochrome P450 11B2, mitochondrial CYP11B2 2
P17405 Sphingomyelin phosphodiesterase SMPD1 ASM 2
Q9C0A6 Histone-lysine N-methyltransferase SETD5 SETD5 KIAA1757 2
O95340 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 PAPSS2 ATPSK2 2
Q9NRD8 Dual oxidase 2 DUOX2 LNOX2 THOX2 2
Q13485 Mothers against decapentaplegic homolog 4 SMAD4 DPC4 MADH4 12
Q99798 Aconitate hydratase, mitochondrial ACO2 2
Q16236 Nuclear factor erythroid 2-related factor 2 NFE2L2 NRF2 7
P19544 Wilms tumor protein WT1 4
Q63HN8 E3 ubiquitin-protein ligase RNF213 RNF213 ALO17 C17orf27 KIAA1554 KIAA1618 MYSTR 2
P14923 Junction plakoglobin JUP CTNNG DP3 3
P18054 Polyunsaturated fatty acid lipoxygenase ALOX12 ALOX12 12LO LOG12 2
P60866 Small ribosomal subunit protein uS10 RPS20 2
Q16873 Leukotriene C4 synthase LTC4S 2
P02489 Alpha-crystallin A chain CRYAA CRYA1 HSPB4 2
Q9BYW2 Histone-lysine N-methyltransferase SETD2 SETD2 HIF1 HYPB KIAA1732 KMT3A SET2 HSPC069 5
Q9Y2L1 Exosome complex exonuclease RRP44 DIS3 KIAA1008 RRP44 2
Q9Y2M0 Fanconi-associated nuclease 1 FAN1 KIAA1018 MTMR15 2
Q13510 Acid ceramidase ASAH1 ASAH HSD-33 HSD33 5
Q09472 Histone acetyltransferase p300 EP300 P300 9
P35658 Nuclear pore complex protein Nup214 NUP214 CAIN CAN KIAA0023 3
Q9Y234 Lipoyltransferase 1, mitochondrial LIPT1 2
P29218 Inositol monophosphatase 1 IMPA1 IMPA 4
P05093 Steroid 17-alpha-hydroxylase/17,20 lyase CYP17A1 CYP17 S17AH 2
P04637 Cellular tumor antigen p53 TP53 P53 19
P62140 Serine/threonine-protein phosphatase PP1-beta catalytic subunit PPP1CB 2
Q07864 DNA polymerase epsilon catalytic subunit A POLE POLE1 3
Q13698 Voltage-dependent L-type calcium channel subunit alpha-1S CACNA1S CACH1 CACN1 CACNL1A3 3
P36897 TGF-beta receptor type-1 TGFBR1 ALK5 SKR4 4
Q08426 Peroxisomal bifunctional enzyme EHHADH ECHD 2
P38398 Breast cancer type 1 susceptibility protein BRCA1 RNF53 4
P46531 Neurogenic locus notch homolog protein 1 NOTCH1 TAN1 5
Q9HAN9 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 NMNAT1 NMNAT 2
P07320 Gamma-crystallin D CRYGD CRYG4 2
P33897 ATP-binding cassette sub-family D member 1 ABCD1 ALD 4
Q9Y3E5 Peptidyl-tRNA hydrolase 2, mitochondrial PTRH2 BIT1 PTH2 CGI-147 2
P41182 B-cell lymphoma 6 protein BCL6 BCL5 LAZ3 ZBTB27 ZNF51 2
Q8NBL1 Protein O-glucosyltransferase 1 POGLUT1 C3orf9 CLP46 KTELC1 MDSRP MDS010 UNQ490/PRO1006 3
P07954 Fumarate hydratase, mitochondrial FH 5
Q16678 Cytochrome P450 1B1 CYP1B1 3
Q9NQX3 Gephyrin GPHN GPH KIAA1385 2
Q14191 Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN WRN RECQ3 RECQL2 2
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] HPGD PGDH1 SDR36C1 2
Q00610 Clathrin heavy chain 1 CLTC CLH17 CLTCL2 KIAA0034 2
P53674 Beta-crystallin B1 CRYBB1 2
P21912 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial SDHB SDH SDH1 11
P00558 Phosphoglycerate kinase 1 PGK1 PGKA MIG10 OK/SW-cl.110 2
P40926 Malate dehydrogenase, mitochondrial MDH2 4
P08034 Gap junction beta-1 protein GJB1 CX32 2
P23381 Tryptophan--tRNA ligase, cytoplasmic WARS1 IFI53 WARS WRS 2
Q96T60 Bifunctional polynucleotide phosphatase/kinase PNKP 5
Q9UBV7 Beta-1,4-galactosyltransferase 7 B4GALT7 XGALT1 UNQ748/PRO1478 2
Q12904 Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 AIMP1 EMAP2 SCYE1 5
Q8N1F7 Nuclear pore complex protein Nup93 NUP93 KIAA0095 2
P34897 Serine hydroxymethyltransferase, mitochondrial SHMT2 2
P47897 Glutamine--tRNA ligase QARS1 QARS 2
P15259 Phosphoglycerate mutase 2 PGAM2 PGAMM 2
P04792 Heat shock protein beta-1 HSPB1 HSP27 HSP28 2
O95831 Apoptosis-inducing factor 1, mitochondrial AIFM1 AIF PDCD8 6
Q53GS7 mRNA export factor GLE1 GLE1 GLE1L 3
Q01196 Runt-related transcription factor 1 RUNX1 AML1 CBFA2 3
P00533 Epidermal growth factor receptor EGFR ERBB ERBB1 HER1 8
P22413 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 ENPP1 M6S1 NPPS PC1 PDNP1 5
O60733 85/88 kDa calcium-independent phospholipase A2 PLA2G6 PLPLA9 5
P38935 DNA-binding protein SMUBP-2 IGHMBP2 SMBP2 SMUBP2 2
O95461 Xylosyl- and glucuronyltransferase LARGE1 LARGE1 KIAA0609 LARGE 3
Q5T442 Gap junction gamma-2 protein GJC2 GJA12 3
P07315 Gamma-crystallin C CRYGC CRYG3 3
Q9UDR5 Alpha-aminoadipic semialdehyde synthase, mitochondrial AASS 2
P28482 Mitogen-activated protein kinase 1 MAPK1 ERK2 PRKM1 PRKM2 3
P36776 Lon protease homolog, mitochondrial LONP1 PRSS15 2
P19447 General transcription and DNA repair factor IIH helicase subunit XPB ERCC3 XPB XPBC 2
P12830 Cadherin-1 CDH1 CDHE UVO 7
P21549 Alanine--glyoxylate aminotransferase AGXT AGT1 SPAT 4
P52815 Large ribosomal subunit protein bL12m MRPL12 MRPL7 RPML12 2
O00337 Sodium/nucleoside cotransporter 1 SLC28A1 CNT1 2
P28340 DNA polymerase delta catalytic subunit POLD1 POLD 3
Q99758 Phospholipid-transporting ATPase ABCA3 ABCA3 ABC3 2
Q9H553 Alpha-1,3/1,6-mannosyltransferase ALG2 ALG2 UNQ666/PRO1298 2
Q9BY41 Histone deacetylase 8 HDAC8 HDACL1 CDA07 2
P52848 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 NDST1 HSST HSST1 4
Q9Y4U1 Cyanocobalamin reductase / alkylcobalamin dealkylase MMACHC 3
Q6ISB3 Grainyhead-like protein 2 homolog GRHL2 BOM TFCP2L3 3
Q96I59 Probable asparagine--tRNA ligase, mitochondrial NARS2 2
P60484 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN PTEN MMAC1 TEP1 17
Q05639 Elongation factor 1-alpha 2 EEF1A2 EEF1AL STN 2
P38646 Stress-70 protein, mitochondrial HSPA9 GRP75 HSPA9B mt-HSP70 2
P02730 Band 3 anion transport protein SLC4A1 AE1 DI EPB3 2
P48735 Isocitrate dehydrogenase [NADP], mitochondrial IDH2 3
Q9Y223 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase GNE GLCNE 3
P51659 Peroxisomal multifunctional enzyme type 2 HSD17B4 EDH17B4 SDR8C1 2
P24928 DNA-directed RNA polymerase II subunit RPB1 POLR2A POLR2 2
P41250 Glycine--tRNA ligase GARS1 GARS 2
P18074 General transcription and DNA repair factor IIH helicase subunit XPD ERCC2 XPD XPDC 3
P10809 60 kDa heat shock protein, mitochondrial HSPD1 HSP60 2
Q9H6U8 Alpha-1,2-mannosyltransferase ALG9 ALG9 DIBD1 2
Q15796 Mothers against decapentaplegic homolog 2 SMAD2 MADH2 MADR2 2
Q15031 Leucine--tRNA ligase, mitochondrial LARS2 KIAA0028 4
P42336 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform PIK3CA 13
P53673 Beta-crystallin A4 CRYBA4 2
P36382 Gap junction alpha-5 protein GJA5 2
P12081 Histidine--tRNA ligase, cytoplasmic HARS1 HARS HRS 2
Q16854 Deoxyguanosine kinase, mitochondrial DGUOK DGK 3
Q14032 Bile acid-CoA:amino acid N-acyltransferase BAAT 3
O43776 Asparagine--tRNA ligase, cytoplasmic NARS1 NARS NRS 2
P56192 Methionine--tRNA ligase, cytoplasmic MARS1 MARS 3
O95835 Serine/threonine-protein kinase LATS1 LATS1 WARTS 2
P50570 Dynamin-2 DNM2 DYN2 2
P04062 Lysosomal acid glucosylceramidase GBA1 GBA GC GLUC 4
O60488 Long-chain-fatty-acid--CoA ligase 4 ACSL4 ACS4 FACL4 LACS4 2
Q9UBC2 Epidermal growth factor receptor substrate 15-like 1 EPS15L1 EPS15R 2
P11586 C-1-tetrahydrofolate synthase, cytoplasmic MTHFD1 MTHFC MTHFD 2
O43933 Peroxisomal ATPase PEX1 PEX1 4
P84022 Mothers against decapentaplegic homolog 3 SMAD3 MADH3 3
P29033 Gap junction beta-2 protein GJB2 5
P27635 Large ribosomal subunit protein uL16 RPL10 DXS648E QM 4
Q96CW1 AP-2 complex subunit mu AP2M1 CLAPM1 KIAA0109 3
P17302 Gap junction alpha-1 protein GJA1 GJAL 6
P0C0L4 Complement C4-A C4A CO4 CPAMD2 2
O43464 Serine protease HTRA2, mitochondrial HTRA2 OMI PRSS25 2
P35222 Catenin beta-1 CTNNB1 CTNNB OK/SW-cl.35 PRO2286 10
O75712 Gap junction beta-3 protein GJB3 CX31 3
Q05655 Protein kinase C delta type PRKCD PKCD 3
O43541 Mothers against decapentaplegic homolog 6 SMAD6 MADH6 4
Q9C0B1 Alpha-ketoglutarate-dependent dioxygenase FTO FTO KIAA1752 2
P51608 Methyl-CpG-binding protein 2 MECP2 7
Q9NP73 Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 ALG13 CXorf45 GLT28D1 MDS031 3
O75881 Cytochrome P450 7B1 CYP7B1 2
Q9BT40 Inositol polyphosphate 5-phosphatase K INPP5K PPS SKIP 2
O95255 ATP-binding cassette sub-family C member 6 ABCC6 ARA MRP6 2
Q53H12 Acylglycerol kinase, mitochondrial AGK MULK 2
P15918 V(D)J recombination-activating protein 1 RAG1 RNF74 2
Q13057 Bifunctional coenzyme A synthase COASY PSEC0106 2
P51530 DNA replication ATP-dependent helicase/nuclease DNA2 DNA2 DNA2L KIAA0083 2
O43175 D-3-phosphoglycerate dehydrogenase PHGDH PGDH3 2
P02649 Apolipoprotein E APOE 4
P28799 Progranulin GRN 2
P27797 Calreticulin CALR CRTC 2
Q92562 Polyphosphoinositide phosphatase FIG4 KIAA0274 SAC3 4
P05067 Amyloid-beta precursor protein APP A4 AD1 3
Q01968 Inositol polyphosphate 5-phosphatase OCRL OCRL OCRL1 2
Q9NRR6 Phosphatidylinositol polyphosphate 5-phosphatase type IV INPP5E 3
P19367 Hexokinase-1 HK1 5
Q9Y259 Choline/ethanolamine kinase CHKB CHETK CHKL 2
Q92993 Histone acetyltransferase KAT5 KAT5 HTATIP TIP60 2
O75665 Centriole and centriolar satellite protein OFD1 OFD1 CXorf5 4
Q08J23 RNA cytosine C(5)-methyltransferase NSUN2 NSUN2 SAKI TRM4 5
P02511 Alpha-crystallin B chain CRYAB CRYA2 HSPB5 3
P37840 Alpha-synuclein SNCA NACP PARK1 2
P60709 Actin, cytoplasmic 1 ACTB 3
P57740 Nuclear pore complex protein Nup107 NUP107 3
O00329 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform PIK3CD 2
P46937 Transcriptional coactivator YAP1 YAP1 YAP65 3