Proteins with multiple diseases (ORPHANET)

UniProt ID UniProt name Gene # of diseases
P26998 Beta-crystallin B3 CRYBB3 CRYB3 2
P18074 General transcription and DNA repair factor IIH helicase subunit XPD ERCC2 XPD XPDC 2
Q9Y2L1 Exosome complex exonuclease RRP44 DIS3 KIAA1008 RRP44 3
P40939 Trifunctional enzyme subunit alpha, mitochondrial HADHA HADH 3
P05186 Alkaline phosphatase, tissue-nonspecific isozyme ALPL 5
P05067 Amyloid-beta precursor protein APP A4 AD1 6
Q09472 Histone acetyltransferase p300 EP300 P300 6
Q96T60 Bifunctional polynucleotide phosphatase/kinase PNKP 3
Q6ZWL3 Cytochrome P450 4V2 CYP4V2 2
Q9C0A6 Histone-lysine N-methyltransferase SETD5 SETD5 KIAA1757 2
O95340 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 PAPSS2 ATPSK2 2
Q16854 Deoxyguanosine kinase, mitochondrial DGUOK DGK 2
Q13485 Mothers against decapentaplegic homolog 4 SMAD4 DPC4 MADH4 9
Q9HCG7 Non-lysosomal glucosylceramidase GBA2 KIAA1605 SPG46 AD035 2
P48735 Isocitrate dehydrogenase [NADP], mitochondrial IDH2 7
Q5T442 Gap junction gamma-2 protein GJC2 GJA12 2
Q15031 Leucine--tRNA ligase, mitochondrial LARS2 KIAA0028 2
P04637 Cellular tumor antigen p53 TP53 P53 14
Q92562 Polyphosphoinositide phosphatase FIG4 KIAA0274 SAC3 3
P43320 Beta-crystallin B2 CRYBB2 CRYB2 CRYB2A 10
P60866 Small ribosomal subunit protein uS10 RPS20 2
Q93063 Exostosin-2 EXT2 2
Q16637 Survival motor neuron protein SMN1 SMN SMNT; SMN2 SMNC 4
P15918 V(D)J recombination-activating protein 1 RAG1 RNF74 4
P28340 DNA polymerase delta catalytic subunit POLD1 POLD 2
P00533 Epidermal growth factor receptor EGFR ERBB ERBB1 HER1 6
Q9Y2M0 Fanconi-associated nuclease 1 FAN1 KIAA1018 MTMR15 2
Q5TEU4 Arginine-hydroxylase NDUFAF5, mitochondrial NDUFAF5 C20orf7 2
P35222 Catenin beta-1 CTNNB1 CTNNB OK/SW-cl.35 PRO2286 9
O95452 Gap junction beta-6 protein GJB6 3
Q9Y234 Lipoyltransferase 1, mitochondrial LIPT1 2
P05093 Steroid 17-alpha-hydroxylase/17,20 lyase CYP17A1 CYP17 S17AH 2
O43933 Peroxisomal ATPase PEX1 PEX1 3
P62140 Serine/threonine-protein phosphatase PP1-beta catalytic subunit PPP1CB 2
Q07864 DNA polymerase epsilon catalytic subunit A POLE POLE1 3
O75712 Gap junction beta-3 protein GJB3 CX31 2
P27635 Large ribosomal subunit protein uL16 RPL10 DXS648E QM 2
P60709 Actin, cytoplasmic 1 ACTB 2
P05813 Beta-crystallin A3 CRYBA1 CRYB1 5
Q01196 Runt-related transcription factor 1 RUNX1 AML1 CBFA2 2
P00813 Adenosine deaminase ADA ADA1 3
Q99959 Plakophilin-2 PKP2 4
P22914 Gamma-crystallin S CRYGS CRYG8 3
P33897 ATP-binding cassette sub-family D member 1 ABCD1 ALD 4
Q9Y3E5 Peptidyl-tRNA hydrolase 2, mitochondrial PTRH2 BIT1 PTH2 CGI-147 2
Q9C000 NACHT, LRR and PYD domains-containing protein 1 NLRP1 CARD7 DEFCAP KIAA0926 NAC NALP1 2
Q13510 Acid ceramidase ASAH1 ASAH HSD-33 HSD33 3
P41182 B-cell lymphoma 6 protein BCL6 BCL5 LAZ3 ZBTB27 ZNF51 2
P21912 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial SDHB SDH SDH1 4
Q16678 Cytochrome P450 1B1 CYP1B1 3
Q9NQX3 Gephyrin GPHN GPH KIAA1385 2
P21675 Transcription initiation factor TFIID subunit 1 TAF1 BA2R CCG1 CCGS TAF2A 2
Q12904 Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 AIMP1 EMAP2 SCYE1 2
Q14191 Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN WRN RECQ3 RECQL2 2
P48165 Gap junction alpha-8 protein GJA8 10
P02649 Apolipoprotein E APOE 3
P42336 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform PIK3CA 14
P15428 15-hydroxyprostaglandin dehydrogenase [NAD(+)] HPGD PGDH1 SDR36C1 2
P17405 Sphingomyelin phosphodiesterase SMPD1 ASM 5
Q14376 UDP-glucose 4-epimerase GALE 2
P53672 Beta-crystallin A2 CRYBA2 2
P00558 Phosphoglycerate kinase 1 PGK1 PGKA MIG10 OK/SW-cl.110 2
P47897 Glutamine--tRNA ligase QARS1 QARS 2
P02489 Alpha-crystallin A chain CRYAA CRYA1 HSPB4 7
O95831 Apoptosis-inducing factor 1, mitochondrial AIFM1 AIF PDCD8 6
Q53GS7 mRNA export factor GLE1 GLE1 GLE1L 3
Q9UDY2 Tight junction protein ZO-2 TJP2 X104 ZO2 4
Q16236 Nuclear factor erythroid 2-related factor 2 NFE2L2 NRF2 5
O60733 85/88 kDa calcium-independent phospholipase A2 PLA2G6 PLPLA9 5
Q9UDR5 Alpha-aminoadipic semialdehyde synthase, mitochondrial AASS 3
Q99758 Phospholipid-transporting ATPase ABCA3 ABCA3 ABC3 3
P07316 Gamma-crystallin B CRYGB CRYG2 4
P19544 Wilms tumor protein WT1 5
P17050 Alpha-N-acetylgalactosaminidase NAGA 3
P36776 Lon protease homolog, mitochondrial LONP1 PRSS15 2
Q9BYW2 Histone-lysine N-methyltransferase SETD2 SETD2 HIF1 HYPB KIAA1732 KMT3A SET2 HSPC069 4
O95835 Serine/threonine-protein kinase LATS1 LATS1 WARTS 3
P22413 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 ENPP1 M6S1 NPPS PC1 PDNP1 2
Q05655 Protein kinase C delta type PRKCD PKCD 2
P32189 Glycerol kinase GK 2
O43541 Mothers against decapentaplegic homolog 6 SMAD6 MADH6 2
Q15046 Lysine--tRNA ligase KARS1 KARS KIAA0070 2
Q9Y4U1 Cyanocobalamin reductase / alkylcobalamin dealkylase MMACHC 3
P53673 Beta-crystallin A4 CRYBA4 3
P04180 Phosphatidylcholine-sterol acyltransferase LCAT 2
Q9Y6K1 DNA (cytosine-5)-methyltransferase 3A DNMT3A 6
P60484 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN PTEN MMAC1 TEP1 19
P38646 Stress-70 protein, mitochondrial HSPA9 GRP75 HSPA9B mt-HSP70 2
Q9Y223 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase GNE GLCNE 3
P07320 Gamma-crystallin D CRYGD CRYG4 9
P17302 Gap junction alpha-1 protein GJA1 GJAL 4
P10809 60 kDa heat shock protein, mitochondrial HSPD1 HSP60 2
P02730 Band 3 anion transport protein SLC4A1 AE1 DI EPB3 5
Q9H8P0 Polyprenol reductase SRD5A3 SRD5A2L 2
P29033 Gap junction beta-2 protein GJB2 6
Q14032 Bile acid-CoA:amino acid N-acyltransferase BAAT 3
P07315 Gamma-crystallin C CRYGC CRYG3 6
P08034 Gap junction beta-1 protein GJB1 CX32 3
P02511 Alpha-crystallin B chain CRYAB CRYA2 HSPB5 5
P50570 Dynamin-2 DNM2 DYN2 4
Q9HAN9 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 NMNAT1 NMNAT 3
P11498 Pyruvate carboxylase, mitochondrial PC 3
P14923 Junction plakoglobin JUP CTNNG DP3 5
P38935 DNA-binding protein SMUBP-2 IGHMBP2 SMBP2 SMUBP2 3
P54886 Delta-1-pyrroline-5-carboxylate synthase ALDH18A1 GSAS P5CS PYCS 4
P84022 Mothers against decapentaplegic homolog 3 SMAD3 MADH3 3
Q16394 Exostosin-1 EXT1 2
P19367 Hexokinase-1 HK1 2
P36897 TGF-beta receptor type-1 TGFBR1 ALK5 SKR4 6
P56192 Methionine--tRNA ligase, cytoplasmic MARS1 MARS 4
P00966 Argininosuccinate synthase ASS1 ASS 2
P46937 Transcriptional coactivator YAP1 YAP1 YAP65 4
Q9NP73 Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 ALG13 CXorf45 GLT28D1 MDS031 2
P12830 Cadherin-1 CDH1 CDHE UVO 5
Q9Y6H8 Gap junction alpha-3 protein GJA3 5
Q9C0B1 Alpha-ketoglutarate-dependent dioxygenase FTO FTO KIAA1752 2
P51608 Methyl-CpG-binding protein 2 MECP2 7
P07954 Fumarate hydratase, mitochondrial FH 3
O75881 Cytochrome P450 7B1 CYP7B1 2
Q53H12 Acylglycerol kinase, mitochondrial AGK MULK 2
O95461 Xylosyl- and glucuronyltransferase LARGE1 LARGE1 KIAA0609 LARGE 4
P13569 Cystic fibrosis transmembrane conductance regulator CFTR ABCC7 2
Q13057 Bifunctional coenzyme A synthase COASY PSEC0106 2
O43175 D-3-phosphoglycerate dehydrogenase PHGDH PGDH3 2
P53674 Beta-crystallin B1 CRYBB1 5
P28799 Progranulin GRN 2
P27797 Calreticulin CALR CRTC 3
P15924 Desmoplakin DSP 9
Q01968 Inositol polyphosphate 5-phosphatase OCRL OCRL OCRL1 2
Q9NRR6 Phosphatidylinositol polyphosphate 5-phosphatase type IV INPP5E 3
Q9Y259 Choline/ethanolamine kinase CHKB CHETK CHKL 2
P04062 Lysosomal acid glucosylceramidase GBA1 GBA GC GLUC 7
O75665 Centriole and centriolar satellite protein OFD1 OFD1 CXorf5 4
Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 HSD17B10 ERAB HADH2 MRPP2 SCHAD SDR5C1 XH98G2 2
P37840 Alpha-synuclein SNCA NACP PARK1 2
P47712 Cytosolic phospholipase A2 PLA2G4A CPLA2 PLA2G4 2