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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7426 - 7450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ACACA ACAT1 ALOX5 ARSA CAT CD38 ENPP2 G6PD GAA HPRT1 KLRK1 LTC4S NCAM1 PARP10 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTGS1 SOAT1 TBXAS1 TM7SF2 XYLT2	151056 22914 240 2539 2548 31 3251 38 4056 410 4684 5168 5290 5291 5293 5294 5321 5742 64132 6646 6916 7108 847 84875 952	Homo sapiens (human)	DisGeNET
DOID:3950	adrenal carcinoma Aliases: carcinoma of the Adrenal gland	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)	DisGeNET
DOID:3948	adrenocortical carcinoma Aliases: Adrenal cortical carcinoma carcinoma of the Adrenal cortex	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	ACACA ACAT1 ACE ACLY ACSBG1 ACSL1 ACSL4 ACSS2 ADH1B ADH1C AGL AKR1B10 AKR1B1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ART1 ASAH1 ATRNL1 B3GALT5 B3GNT6 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BPHL BRAF C1GALT1 CA4 CALR CAT CBR1 CD248 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 COMT CSGALNACT1 CTBS CYB5R1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP EFNA1 ENO1 ENPP3 ENPP7 FADS1 FASN FBP1 FH FMOD FOLR1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT7 G6PD GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GLTP GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LPIN1 LYNX1 LYPD5 MACROD2 MBD4 MBL2 ME1 MGLL MICA MMP25 MMUT MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NEU3 NTNG1 OGA OGG1 OLR1 PARG PARP1 PCYT1A PCYT1B PFKFB3 PGK1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD2 PLD4 PLEKHA8 PNP PNPLA2 POGLUT1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPIA RPN2 SCD SDC1 SDC2 SDC4 SELE SELL SELP SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC1 STT3A SULT1E1 SYNJ2 TDG TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UNG VCAM1 VCAN VNN1	100507436 1012 10135 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 126 1312 140733 142 1462 146712 1486 151056 1543 1544 1571 1576 1581 1588 1591 1594 1605 1607 1634 1636 166929 1717 1718 1738 178 1800 1836 1890 192134 1942 2023 217 218 2180 2182 219 2194 220 2203 2271 22854 22914 22933 22934 231 23175 23205 2331 23423 2348 23583 23600 23659 240 246 250 2523 2524 2525 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3965 3990 3992 4051 410 4153 417 4199 427 4360 4507 4534 4594 4595 4680 47 4860 4968 4973 501 50487 51228 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5563 55790 55808 55902 56848 56913 56983 56994 570 57016 57104 57124 5716 57214 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6385 6401 6402 6403 64083 64386 6470 6472 6480 6484 6514 6515 6517 6518 6519 66004 6609 6646 670 673 6783 6996 7086 7108 7355 7367 7374 7412 762 7941 7991 79947 80328 811 8277 8394 8399 84076 8434 847 84725 8505 8525 8526 85329 8658 8692 8693 873 8821 8871 8876 8877 8879 8897 8930 9104 9126 9245 93010 9365 9420 9468 9536 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4195	hyperglycemia	ACACA ACAT1 ACE ACHE ACSM3 AKR1B1 ALDH2 ALDOB ANXA5 APRT ARSA ASAH1 CAT CD33 CD44 CEACAM5 CEL CERS2 CPT1A CPT2 CTSA CYP11A1 CYP1B1 CYP2C9 CYP2E1 DCN DEGS1 DGKD DLD ELOVL1 ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FASN FBXO2 FCGR3B G6PC1 G6PC2 GAD1 GAL3ST1 GALNT2 GCK GFPT1 GFPT2 GGT1 GLDC GLO1 GLUL GPX1 GPX5 GUSB GYS2 HAS2 HK2 HK3 HKDC1 HPGDS HPRT1 HPSE HSD11B1 HSPG2 HTR2A ICAM1 IL1R1 INPP5F KL KLRK1 LDHA LEPR LGALS1 LGALS3 LPCAT3 LPL MBL2 MCAT MGAM MPG NAMPT NEU1 OGG1 PARP1 PC PCK1 PCK2 PDHX PDX1 PFKM PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PNPLA3 PPARGC1A PRKAA2 PRNP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SCP2 SDC1 SDC2 SDC4 SELE SGPL1 SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC35G1 SLC5A1 SMUG1 SOAT1 SORD ST3GAL4 SULT1E1 TKT TM7SF2 UGCG VCAM1 VCAN	10135 10162 1048 10559 1056 10855 10891 1374 1376 142 1462 151056 1545 1559 1571 1583 159371 1634 1636 1738 2023 2026 2053 217 2194 2215 22876 229 22914 22933 231 23583 2538 2571 2590 26232 2645 26503 2673 2678 27036 27306 2731 27349 2739 2752 2876 2880 2990 29956 2998 3037 308 3099 31 3101 3251 3290 3339 3356 3383 353 3554 3651 38 3939 3953 3956 3958 4023 410 4153 427 43 4350 4758 4968 5091 5105 5106 51548 5167 5213 5290 5291 5293 5294 5313 5315 5320 5321 5329 5476 5563 5621 5728 5730 5742 5743 57818 5973 60481 6296 6319 6342 6382 6383 6385 6401 6476 64834 6484 6514 6515 6517 6523 6646 6652 6783 7086 7108 7357 7412 80201 80339 8050 8398 847 8527 8560 8879 8972 9365 945 9514 960 9945	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	ACACA ACAN ALOX12 CAT CD14 CHIT1 CLEC16A COG6 DAG1 FCN2 FUT2 HYAL1 ICAM1 LACC1 LYZ MBL2 NAMPT NCAM1 OLR1 PCYT1B PLAUR PRNP SELP SLC26A2 SLC2A3 TNFRSF10C VTCN1	10135 1118 144811 1605 176 1836 2220 23274 239 2524 31 3373 3383 4069 4153 4684 4973 5329 5621 57511 6403 6515 79679 847 8794 929 9468	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ACACA ACAN ACE ADIPOQ ADRB3 AGPAT2 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ANXA5 APRT ARSD BAAT CAT CD44 CHST3 COMT CPT1A CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP2B6 CYP2R1 CYP51A1 DCN DHCR7 DHRS11 ENPP1 FADS1 FADS2 FBXO44 FUT7 G6PC1 GGT1 GPX1 GPX3 GYS2 H6PD HACD1 HAS1 HAS2 HAS3 HMMR HPGDS HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 ICAM1 IL1R1 ISYNA1 ITLN1 LALBA LCT LGALS3 LPCAT2 LPIN1 LPL MANEA MELTF MGAT5B MIOX MPG NAMPT NANS NEIL2 PAFAH1B1 PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLAUR PNPLA2 PNPLA3 PPT1 PRKAA2 PTEN PTGS2 RENBP SCD SFTPC SLC2A4 SLC33A1 SLC35G1 SLC37A4 SRD5A1 SRD5A2 STS SULT1E1 VCAM1 VCAN	10135 10555 120227 1312 1374 1376 1462 146664 1543 1545 155 1555 1583 1584 1586 1588 1589 159371 1595 1634 1636 1645 1646 1717 176 208 220 231 23175 2529 252969 2538 2542 2678 27306 2876 2878 2998 3036 3037 3038 308 31 3161 3283 3284 3290 3291 3292 3294 3295 3383 353 3554 3906 3938 3958 3992 4023 412 414 4241 4350 5048 51477 51478 5167 5290 5291 5293 5294 5310 5329 54187 54947 5538 55586 55600 5563 570 57104 5728 5743 5973 6319 6440 6517 6715 6716 6783 7412 79154 7941 79694 80339 847 8630 8644 9060 9197 9200 93611 9370 9415 9469 9563 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACACA ACAN ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2E1 DCN FUT4 GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 MTAP NTHL1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SIGLEC7 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN VTCN1	10327 125 126 128 131 1462 1543 1545 1555 1557 1571 1634 1636 176 217 23583 23659 2526 2597 27036 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4507 4913 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5728 5743 6515 6783 79679 847 8473 8821 929 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2596	larynx cancer	ACACA ACAN ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2E1 DCN FUT4 GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 MTAP NTHL1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SHMT1 SIGLEC7 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN VTCN1	10327 125 126 128 131 1462 1543 1545 1555 1557 1571 1634 1636 176 217 23583 23659 2526 2597 27036 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4507 4913 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5728 5743 6470 6515 6783 79679 847 8473 8821 929 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:235	colonic benign neoplasm Aliases: Colonic Mass Colonic tumor colon neoplasm neoplasm of colon	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:219	colon cancer	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BAD C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GSK3B GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MAPK14 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNFRSF10C TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 1432 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 207 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2932 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5562 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 572 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8794 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:656	adrenal adenoma Aliases: adenoma of the Adrenal gland	ACACA ACADVL AKR1C3 ALOX15B CHGA CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP4F3 DHCR24 G6PD GAPDH HSD11B2 HSD3B2 SDHB SDHC SDHD SMUG1	1113 1555 1583 1584 1585 1586 1588 1589 1718 23583 247 2539 2597 31 3284 3291 37 4051 6390 6391 6392 8644	Homo sapiens (human)	DisGeNET
DOID:660	adrenal cortex cancer Aliases: Adrenal cortical tumors malignant Adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex	ACACA ACADVL ACAT1 ACOT7 AKR1B10 AKR1B1 AKR1C3 ALOX15B CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP4F2 CYP4F3 DHCR24 ENO2 ENPP3 FH G6PD GAPDH GLB1 HSD11B2 HSD17B4 HSD3B2 IDH1 IDH2 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 PTEN SCP2 SDHB SDHC SDHD SIRT6 SMUG1 SOAT1 SPHK1 TKT TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1589 1718 2026 2271 231 23583 247 2539 2597 2720 31 3284 3291 3295 3417 3418 3482 37 38 4051 4191 4595 4669 51548 5169 5290 5331 57016 5728 6342 6390 6391 6392 6646 7086 7108 8529 8644 8877 933 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ACACA ACADSB ACAT1 ACE ACHE ACLY ACOX1 ACSL3 ACSL5 ADIPOQ AGL AKR1B1 ALOX5 ALPP APRT ARSA ATRNL1 CAT CD38 CD44 CDH13 CEL CPT1A CPT2 CYB5R3 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP51A1 CYP7A1 DGAT1 DLD FASN FCGR3B FCN1 FDFT1 G6PC1 G6PD GALNT2 GFPT1 GGT1 GLA GLB1 GPIHBP1 GYS2 HADHB HSD11B1 HSPG2 INPP5F KL KLB KLRK1 LCAT LEP LGALS3 LIPA LIPC LPL LYZ NAMPT NEIL1 OLR1 PC PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 PLB1 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS1 PTGS2 RGN SDC1 SDC2 SELP SLC17A5 SLC2A4 SLC37A4 SOAT1 SOAT2 ST3GAL4 VCAM1	1012 10135 1056 1374 1376 151056 152831 1543 1545 1555 1557 1559 1571 1581 1588 1593 1595 1636 1727 1738 178 2181 2194 2215 2219 2222 22876 22914 231 240 250 2538 2539 2542 2590 26033 26503 2673 2678 2717 2720 2998 3032 31 3290 3339 338328 353 36 38 3931 3952 3958 3988 3990 4023 4069 410 43 47 4973 5091 51 51703 5288 5290 5291 5293 5294 5320 5563 57104 5728 5742 5743 6382 6383 6403 6484 6517 6646 7412 7941 79661 80339 8399 8435 847 8694 9104 9365 9370 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	ACACA ACADM ACE APRT CD14 CD248 CD38 CPT1A CPT2 CYP11B2 CYP1A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 DLAT ELOVL6 FADS2 FCGR3B FUT1 KLRB1 MBL2 MICA PCCA PCCB PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PTGS1 PTGS2 SELL SFTPA2 SIRT6 SLC2A4 TNF UGCG XYLT2	100507436 1374 1376 1543 1555 1557 1585 1589 1591 1593 1594 1636 1737 2215 2523 31 34 353 3820 4153 5095 5096 51548 5209 5236 5290 5291 5293 5294 5315 5321 57124 5742 5743 6402 64132 6517 7124 729238 7357 79071 929 9415 952	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ACACA ACADM ACAT1 ACE ACHE ACLY ACOX1 ACSF3 ADH1B AGL AGXT AKR1C3 AKR1D1 AMT APRT ARSA BAAT CAT CD14 CD248 CD38 CD74 CDH13 CEACAM5 CERS6 CFC1 COL9A2 CPT1A CPT2 CTNS CYP11B1 CYP11B2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP7A1 CYP7B1 CYP8B1 DGAT1 DLD ECHS1 ELOVL6 ENO3 ENPP2 FASN G6PC1 G6PD GAA GAD2 GALC GALK1 GALNS GALNT3 GALNT8 GALT GBE1 GCDH GCK GLA GLDC GLUL GNPTAB GPIHBP1 GPX1 GPX3 GYG1 GYS2 HADH HADHA HSD11B1 HSD11B2 IDH1 IDH2 IDUA INPP5K INPPL1 INS KHK KL KLB L2HGDH LCAT LDHA LDHAL6A LDHAL6B LDHB LDHC LGALS3 LPIN2 LPL MACROD1 MBD4 MCEE MGAT1 MGAT2 MGAT4A MMUT MOGAT2 MRC1 NAMPT OGG1 OLR1 PARP1 PARP2 PCCA PCCB PCK2 PDHA1 PDHA2 PDHX PFKL PFKM PFKP PGAM2 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G4A PMM2 PNP PNPLA2 PNPLA3 PRKAA2 PRPS1 PTEN PTGES PTGS2 PYGM RPIA SARM1 SCD SFTPD SI SIGLEC12 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A4 SLC2A5 SLC37A4 SLC5A1 SMPD1 SMUG1 SORD ST3GAL4 STS SULF1 SULT1E1 TALDO1 TM7SF2 TPI1 UMPS VCAM1 VNN1 VNN2	10038 1012 10135 1048 11320 125 1298 1374 1376 142 1497 152831 1545 1555 1557 1559 1581 1582 1584 1585 1589 160287 1636 1738 178 1836 189 1892 197322 2027 2194 22934 23098 23213 23409 23583 253782 2538 2539 2542 2548 2572 2581 2584 2588 2591 2592 26290 2632 2639 2645 26503 2717 2731 275 2752 283871 2876 2878 28992 2992 2998 3030 3033 31 3290 3291 338328 34 3417 3418 3425 353 3630 3636 3795 38 3931 3939 3945 3948 3958 4023 410 412 4245 4247 43 4360 4594 47 4860 4968 4973 5095 5096 51 5106 51548 5160 5161 5168 51763 5211 5213 5214 5224 5236 5290 5291 5293 5294 5310 5313 5315 5321 5373 5563 55997 5631 570 57104 57124 5728 5743 5837 6319 6441 6476 6484 6514 6517 6518 6523 6609 6652 6718 6783 6888 7108 7167 7372 7412 79071 79158 79944 80168 80339 8050 84693 847 8644 8694 8875 8876 8930 89858 92483 929 9365 9420 952 9536 9663 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050387	nonpapillary renal cell carcinoma	ACACA ACADM ACAT1 ACE ACHE ACLY ACOT7 ACSL1 ACSS2 ADH7 AKR1A1 AKR1C3 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CHI3L1 CHSY1 CLEC1B CMAS CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 FBP1 FCGR3B FH FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 PRKAA2 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A4 SLC2A5 SMUG1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10855 1116 11164 11332 120227 126792 131 142 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1890 1892 1942 197257 2023 2026 2180 2203 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 3939 3945 3948 3956 3958 3964 3965 3988 412 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 54732 5563 55902 55907 55959 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6517 6518 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 811 81562 847 8473 8630 8644 8809 8821 8877 9104 912 929 9365 9514 952 960 9672 972	Homo sapiens (human)	DisGeNET
DOID:4473	sarcomatoid renal cell carcinoma Aliases: renal cell carcinoma, spindle cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4464	collecting duct carcinoma Aliases: carcinoma of renal Collecting duct renal Medullary carcinoma renal carcinoma, collecting duct type	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AGK AGRN AKR1A1 AKR1C2 AKR1C3 ALDH1A3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 B4GALNT3 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS1 CERS2 CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CPT1C CRPPA CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ELOVL2 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCER2 FCGR3B FH FPGT FUCA1 FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLA GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 GUSB HAO2 HAS1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IL1R1 IMPA2 INPP4B INPPL1 KDSR KHK KL KLB KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NCAM1 NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARG PARP1 PC PCYT1A PDHB PDIA3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN RPIA SCD SDC1 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SHMT1 SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TKTL1 TM7SF2 TMED3 TMED9 TPI1 TUSC3 TYMP UGCG UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10715 10728 10825 10855 1087 1116 11164 1117 11332 120227 126129 126792 131 1312 142 143888 1462 146664 152831 1543 1545 1577 1588 1591 1594 1605 1634 1636 1646 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 220 2203 2208 221 2215 223 226 2271 22856 229 22925 22933 22934 23423 23583 23600 23659 23761 239 240 242 248 250 2517 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2717 2719 27306 27349 2821 283358 284348 2876 2878 2923 2990 29956 3036 307 308 30835 3099 31 3161 3251 3291 3340 3383 34 3417 3425 353 3554 3613 3636 375790 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 4684 47 4758 4907 4968 5048 5091 51179 51266 5130 51548 5162 5168 5169 5230 5236 5290 5291 5293 5294 5315 5319 5320 5329 5337 5338 54658 5471 54732 54898 5563 55750 55902 55907 55959 5621 5652 56848 56994 57103 57134 5716 57214 5728 5730 5740 5742 5743 58530 6319 6382 6385 6389 6390 6391 6392 6401 6402 6403 64083 6470 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7167 729920 7357 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 8277 8398 8434 84532 847 8473 8505 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9536 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060262	gallbladder disease	ACACA ACADM ACADVL ACE ACHE ACOT7 ADH1A ADH1B ADH1C AKR1A1 AKR1B10 AKR1C1 AKR1D1 ALDH1B1 ALDH2 ALPP AMACR ARSH ASAH2 ATP6AP1 ATP6AP2 ATRNL1 CCDC115 CD14 CD1D CD209 CEACAM5 CEACAM7 CFC1 CHI3L1 CLEC1B COMT CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP4F3 CYP51A1 CYP7A1 CYP7B1 DLAT EHHADH ENO3 ENPP2 EXT1 FUT1 FUT2 G6PC1 GALT GANAB GBE1 GGT1 GLO1 GOLPH3 GP2 GPC3 GUSB H6PD HADH HADHA HAS1 HAS3 HK3 HMGCS2 HPGDS HSD11B1 HSD17B6 HSD3B7 ICAM1 IGF2R IL1RAP IMPA1 ISYNA1 KLRK1 LCAT LGALS3 LGALS9 LIPA LYZ MAN1B1 MASP1 MBL2 MBOAT7 MICA MPI MTAP NAGA NAMPT NCAM1 NEIL1 NTM OGG1 OLR1 OPCML PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G5 PMM2 PNPLA3 POFUT1 PRKAA2 PRKCSH PTEN PTGS2 RENBP RGN SC5D SDC1 SELP SIGLEC7 SIRT6 SLC17A5 SLC35A2 SMUG1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA1 ST8SIA4 STS SULT1E1 TALDO1 TKT TM7SF2 TMEM199 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD VCAM1 XYLT2	100507436 10135 10159 10327 10400 1048 1087 1116 11253 11332 124 125 126 1312 147007 1543 1544 1545 1555 1557 1559 1571 1576 1581 1586 1595 1636 1645 1737 1962 2027 2131 217 219 22914 23193 23509 23583 23600 250 2523 2524 2538 2592 26033 2632 26503 2678 27036 2719 27306 2739 2813 2990 3030 3033 3036 3038 30835 31 3101 3158 3290 3383 34 347527 3482 3556 3612 37 3931 3958 3965 3988 4051 4069 412 4153 43 4351 4507 4668 4684 4968 4973 4978 50863 51266 51477 51548 5168 5290 5291 5293 5294 5315 5322 537 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 5589 55997 5648 56624 56848 56886 57016 5728 5743 5973 6309 6382 6403 64083 64132 6480 6484 6489 6716 6718 6783 6888 7086 7108 7355 7364 7369 7412 7903 79143 79661 80270 80339 84317 8630 9104 912 929 9420 9563	Homo sapiens (human)	DisGeNET DisGeNET
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ACACA ACADM ACADVL ACE ACHE ACOT7 ADH1A ADH1B ADH1C AKR1A1 AKR1B10 AKR1C1 AKR1D1 ALDH1B1 ALDH2 ALPP AMACR ARSH ASAH2 ATP6AP1 ATP6AP2 ATRNL1 CCDC115 CD14 CD1D CD209 CEACAM5 CEACAM7 CFC1 CHI3L1 CLEC1B COMT CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP4F3 CYP51A1 CYP7A1 CYP7B1 DLAT EHHADH ENO3 ENPP2 EXT1 FUT1 FUT2 G6PC1 GALT GANAB GBE1 GGT1 GLO1 GLUL GOLPH3 GP2 GPC3 GUSB H6PD HADH HADHA HAS1 HAS3 HK3 HMGCS2 HPGDS HSD11B1 HSD17B6 HSD3B7 ICAM1 IGF2R IL1RAP IMPA1 ISYNA1 KDSR KLRK1 LCAT LGALS3 LGALS9 LIPA LYZ MAN1B1 MASP1 MBL2 MBOAT7 MICA MPI MTAP NAGA NAMPT NCAM1 NEIL1 NTM OGG1 OLR1 OPCML PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G5 PMM2 PNPLA3 POFUT1 PRKAA2 PRKCSH PTEN PTGS2 RENBP RGN SC5D SDC1 SELP SIGLEC7 SIRT6 SLC17A5 SLC35A2 SMUG1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA1 ST8SIA4 STS SULT1E1 TALDO1 TKFC TKT TM7SF2 TMEM199 TNF UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD VCAM1 XYLT2	100507436 10135 10159 10327 10400 1048 1087 1116 11253 11332 124 125 126 1312 147007 1543 1544 1545 1555 1557 1559 1571 1576 1581 1586 1595 1636 1645 1737 1962 2027 2131 217 219 22914 23193 23509 23583 23600 250 2523 2524 2531 2538 2592 26007 26033 2632 26503 2678 27036 2719 27306 2739 2752 2813 2990 3030 3033 3036 3038 30835 31 3101 3158 3290 3383 34 347527 3482 3556 3612 37 3931 3958 3965 3988 4051 4069 412 4153 43 4351 4507 4668 4684 4968 4973 4978 50863 51266 51477 51548 5168 5290 5291 5293 5294 5315 5322 537 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 5589 55997 5648 56624 56848 56886 57016 5728 5743 5973 6309 6382 6403 64083 64132 6480 6484 6489 6716 6718 6783 6888 7086 7108 7124 7355 7364 7369 7412 7903 79143 79661 80270 80339 84317 8630 9104 912 929 9420 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1029	familial periodic paralysis	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR2 NCAM1 PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6440 64419 6476 653509 7108 7167 729920 79147 81035 847 85365 8694 8898 8972 9215 952 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:423	myopathy	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR1 MTMR2 NCAM1 NPL PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SDHB SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6390 6440 64419 6476 653509 7108 7167 729920 79147 80896 81035 847 85365 8694 8776 8898 8972 9215 952 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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