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GlyCosmos Diseases

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

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

Displaying entries **2101 - 2125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110252	cataract 37 Aliases: CTRCT37	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:4766	embryoma Aliases: Blastoma	A4GALT A4GNT ABAT ABO ACACA ACACB ACADL ACADS ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOT8 ACSBG1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS1 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGK AGPAT1 AGPAT2 AGPS AGRN AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDH9A1 ALDOA ALG2 ALG3 ALOX12 ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR AMT AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APRT ARSA ARSB ARSF ARSG ART1 ASAH1 ATP6AP2 B3GALNT2 B3GAT1 B3GNT3 B3GNT6 B4GALNT1 B4GALNT2 B4GALNT3 B4GALNT4 B4GALT1 B4GALT3 B4GALT5 BAAT BCKDHB BPHL BST1 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD14 CD177 CD1D CD209 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERS1 CERS2 CERS4 CERS5 CERS6 CFC1 CHGA CHI3L1 CHIT1 CHKA CHPF2 CHPF CHPT1 CHST15 CHST3 CHSY1 CLC CLEC10A CLEC12A CLEC12B CLEC14A CLEC18B CLEC1B CLEC3A CLEC6A CLEC7A CMAS CNTN1 CNTN2 CNTN3 COMT CPM CPT1A CPT1B CPT1C CPT2 CRYBG3 CRYL1 CS CSPG4 CTSA CYB5R3 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4A11 CYP4F2 CYP4F3 CYP51A1 CYP7B1 DAD1 DAG1 DBT DCN DEGS1 DGCR2 DGKA DGKB DGKD DGKE DGKZ DHCR24 DHDDS DHRS11 DLD DPEP1 DSE EBP ECHS1 EFNA1 EFNA2 EFNA5 ELOVL5 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 ENPP3 EPHX2 EPM2A EXT1 EXTL1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN1 FCN2 FDFT1 FDPS FH FKTN FMOD FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 FUT9 G6PC1 G6PC3 G6PD GAD1 GAD2 GAL3ST1 GALC GALNS GALNT11 GALNT12 GALNT14 GALNT2 GALNT3 GALNT5 GALNT6 GALNT7 GAPDH GAPDHS GAS1 GBA1 GBE1 GBGT1 GCK GCNT1 GCNT3 GCSH GDPD5 GFPT1 GFPT2 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GM2A GMDS GML GNPAT GNPTAB GOLPH3 GPAA1 GPAM GPC1 GPC2 GPC3 GPC6 GPD1 GPD2 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB HACD1 HADH HADHB HAO2 HAS1 HAS2 HEXA HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST1 HS3ST2 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B6 HSD17B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 ICAM2 ICAM5 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 IMPA2 INPP1 INPP4A INPP4B INPP5D INPP5E INPPL1 ISYNA1 ITPKA ITPKB KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LALBA LARGE2 LAYN LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LIPG LPCAT1 LPIN1 LPL LSS LTA4H LY6K LY75 LYPD3 LYPD5 LYPLA1 M6PR MACROD1 MACROD2 MAG MAN2A1 MANEA MASP2 MBD4 MBL2 MCAT MCFD2 MDGA2 MDH1 MDH2 ME1 ME2 MELTF MGAM MGAT1 MGAT3 MGAT4A MGAT4B MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MPI MPPE1 MRC1 MSLN MSMO1 MTAP MTM1 MTMR3 MTMR7 MUTYH NAAA NAGA NAGLU NAMPT NANS NCAM1 NDST1 NDST4 NDUFAB1 NEIL1 NEIL2 NEIL3 NEU1 NEU3 NEU4 NGLY1 NT5E NTHL1 NTM NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OVGP1 OXCT1 PAFAH1B1 PAFAH1B2 PAPSS1 PARG PARP14 PARP15 PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCK1 PCK2 PCYT1A PCYT1B PCYT2 PDHA1 PDHX PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP2 PGD PGK1 PGM1 PGP PI4K2A PIGA PIGH PIGS PIGU PIGX PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2B PIP4K2C PIP5K1B PIP5KL1 PISD PKD1 PKD2 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB2 PLCB4 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLET1 PLOD3 PLPP1 PLPP2 PLPP3 PMM2 PNP PNPLA2 PNPLA3 PNPLA6 POGLUT1 POMT2 PPP1R3A PPP1R3B PPP1R3C PPT1 PPT2 PRG2 PRG3 PRKAA2 PRNP PRPS1 PRPS2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGB RECK RENBP RGMA RGMB RGN RPE RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SGMS2 SGPL1 SGPP1 SGPP2 SGSH SHMT1 SHMT2 SI SIGLEC15 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A2 SLC35G1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA2 ST8SIA3 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TDG TEX101 THEM4 TIGAR TIPARP TKT TKTL1 TKTL2 TM7SF2 TMED5 TMEM165 TMEM260 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGGT1 UGGT2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2A1 UGT2B10 UGT2B17 UGT2B4 UGT2B7 UGT8 ULBP1 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VNN2 VTCN1 XYLT2	10005 10038 10039 100507436 10082 100861540 1012 10135 10143 10159 10195 10232 10327 10331 10394 1040 10434 10457 10462 1048 10554 10555 10558 10559 1056 10610 10682 10690 10715 10724 10728 10747 10825 10855 1087 10908 10941 10998 1109 1113 11141 11145 1116 11164 1118 11181 1119 11226 11227 11282 11320 11332 11343 113612 115290 117145 1178 120071 120227 124 124872 125 126 126129 127 1272 128 128869 129807 130 130367 131 1312 131544 135228 1368 1374 1375 1376 138429 140733 142 143 1431 143903 1462 1464 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1585 1586 1588 1591 1593 159371 1594 1595 1603 160364 1604 1605 1606 1607 161198 161357 1629 1634 1636 1645 1646 165631 166929 1718 1727 1738 18 1800 1836 1890 1892 192134 1942 1943 1946 200576 2023 2026 2053 2131 2134 217 218 2181 2182 2194 220 2203 2215 2218 2219 221914 2220 2222 2224 223 226 2271 22856 22901 22914 22918 22925 22933 231 23175 23205 23213 2331 23409 2348 2350 23583 23600 23659 23761 239 240 246 247 248 249 250 2517 2523 2524 2525 2526 2528 252969 2530 253782 2538 2539 2542 2571 2572 2581 2583 2588 2590 2591 259230 2597 25976 26035 2619 26279 2629 26301 2632 26330 2645 2650 26503 2653 2673 2674 2678 2683 27036 27076 27087 27163 27180 2719 2720 27306 2731 27315 27349 2739 275 2752 276 2760 2762 2765 277 278 28 2817 2819 2820 2821 2822 283358 283871 284266 284348 285362 285704 2876 2877 2878 2882 28992 29071 2923 2990 29940 29954 29956 3032 3033 3036 3037 307 3073 308 30835 3098 3099 31 310 3158 3161 32 3251 3290 3291 3292 3294 33 3339 3340 3373 3383 3384 338707 3417 3418 3423 3425 3482 349633 35 353 3554 3612 3613 3628 3631 3635 3636 3706 3707 375790 3795 38 3820 3821 3824 387837 3897 3906 3938 3939 3945 3948 3956 3958 3960 3964 3965 3990 3992 4023 4047 4048 4051 4065 4074 4099 410 411 412 4124 4153 416 417 4190 4191 4199 4200 4241 4245 4248 4249 427 43 4326 4350 4351 4360 4507 4534 4594 4595 4668 4669 4680 4684 47 4706 4758 48 4860 4907 4913 4967 4968 497190 4973 4978 50 501 5016 5019 5048 50487 5049 5067 50863 5091 50999 51046 5105 5106 51084 51144 51146 51179 51196 51266 5130 51363 51477 51478 51548 5160 5167 5168 5169 51703 51809 5208 5209 5210 5213 5214 5223 5226 5230 5236 5277 5283 5286 5288 5289 5290 5291 5293 5294 5310 5311 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5373 53947 54187 54480 54575 54576 54577 54578 54579 54600 54625 54657 54658 54659 54742 5476 54916 54965 5506 5507 55247 55361 5538 55512 5552 5553 55556 5563 55750 55753 55757 55768 55799 55808 55858 55902 55907 55959 55997 5621 5631 5634 5652 5660 56623 56848 56886 56913 56963 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57678 5833 5834 594 5973 60481 6120 6185 6296 6307 6319 6382 6383 6385 6389 6390 6391 63917 6392 6401 6402 6403 64083 64132 64386 6440 6441 6448 64579 64581 6470 6472 6476 6480 6482 6484 6487 65078 6514 6515 6517 6518 6523 65258 653509 6609 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 683 684 6900 6996 7086 7087 7108 7167 729238 7355 7357 7363 7364 7365 7367 7368 7372 7374 7378 7412 781 7903 79154 79158 7957 79586 79603 79611 79623 79660 79661 79679 79694 79695 79837 79888 7991 79947 79966 80201 80328 80329 80339 8050 811 8128 81537 81544 81849 821 8277 83639 83666 8372 8395 8396 8398 8399 84076 8434 8443 84532 847 84725 8473 8482 8505 8525 8526 8527 8529 85365 8540 8560 8611 8612 8613 8630 8644 8658 8692 8703 873 8733 8794 8809 8821 8875 8876 8877 8879 8897 8930 8972 8985 90411 9061 91012 9104 9108 912 9126 9197 9200 9245 9254 92579 929 933 9334 9365 9374 9388 93978 94005 9415 9420 945 9468 9469 9514 952 9536 960 962 9672 972 98 9945 9956 9957 9993	Homo sapiens (human)
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	ACLY ACYP2 AGPAT2 AKR1A1 AKR1C1 ALDH1B1 ALDOA ALOX5 ALPI ALPL ALPP ANXA5 APRT ATRNL1 BPHL CALR CANX CAT CBR3 CD109 CD14 CD248 CD38 CD44 CD74 CEACAM6 CHI3L1 CHPT1 CHST2 CLEC5A CNTN2 COL9A2 COLGALT1 COLGALT2 CSPG4 CYP19A1 CYP27B1 CYP2B6 CYP3A4 DCN DDOST DGKZ DHDDS DPEP1 EFNA1 EXT1 EXT2 FADS1 FASN FBP1 FCN2 FDPS FOLR1 FOLR2 FUT3 GAPDH GAS1 GFRA1 GLDC GLUL GPI GPNMB HACD1 HAS2 HAS3 HK2 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1R1 INPP4B KLRK1 L1CAM LDHA LGALS1 LGALS3 LPL LSS LYPD5 MCAT MELTF MGLL MICA MMUT MTAP NANS NEU1 OLR1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB2 PFKFB3 PGAM1 PGAP2 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G4A PLAAT3 PLAUR PLCG1 PLCG2 PLD1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES3 PTGS2 RECK RENBP SDC1 SDC2 SDC4 SDHA SDHC SGMS2 SIRT6 SLC2A4 SMC3 SMPD2 SMUG1 SOAT1 SPHK1 SPHK2 STS SULT1E1 TNKS2 TNKS TP53 TUSC3 ULBP1 ULBP2 VCAM1 VCAN VNN2 VTCN1	100507436 10327 10457 10555 10728 10855 11145 1116 11343 1298 135228 142 1462 1464 1555 1576 1588 1594 1634 1645 1650 166929 1800 1942 2131 2132 219 2194 2203 2220 2224 226 22914 23127 2348 2350 23583 23601 240 248 249 250 2525 2597 26033 2619 2674 27306 2731 27315 27349 2752 2821 284348 3037 3038 308 3099 3290 3291 3383 3417 3418 3482 353 3554 3897 3939 3956 3958 3992 4023 4047 412 4241 4507 4594 4680 47 4758 4973 5048 5106 5130 51548 5208 5209 5223 5281 5290 5291 5293 5294 5310 5315 5321 5329 5335 5336 5337 54187 5563 5621 56848 56994 57104 57124 5716 5728 5743 5973 6382 6383 6385 6389 6391 6517 6610 6646 670 6783 6900 7157 7412 79679 79709 7991 79947 80328 80329 80351 811 821 8434 847 8505 8525 8658 874 8809 8821 8875 8877 9126 9200 929 9435 952 960 972 98	Homo sapiens (human)
DOID:10047	nodular malignant melanoma Aliases: nodular melanoma	MTAP	4507	Homo sapiens (human)
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	PTGS2	5743	Homo sapiens (human)
DOID:11121	pulpitis Aliases: pulp stones	IL18R1 IL1R1 SIRT6 TLR4	3554 51548 7099 8809	Homo sapiens (human)
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:14018	alcoholic liver cirrhosis Aliases: Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis	ACE ADH1A ADH1B ADH1C ADH4 ADH5 AKR1A1 AKR1B1 ALDH1B1 ALDH2 ARSH CAT CD14 CEACAM5 CEL CERS6 CHI3L1 CHST3 CYP1A1 CYP2C19 CYP2E1 CYP4A11 FUT1 GGT1 GLUL GPC3 GPX1 HK2 HPGDS HSPG2 IL1R1 LEP MBOAT7 NAMPT NCAN NR1D1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SLC17A5 SPHK2 ST6GAL1 ST8SIA4 TBXAS1	10135 10327 1048 1056 1116 124 125 126 127 128 1463 1543 1557 1571 1579 1636 217 219 231 2523 253782 26503 2678 2719 27306 2752 2876 3099 3339 347527 3554 3952 5290 5291 5293 5294 56848 6401 6480 6916 7903 79143 80339 847 929 9469 9572	Homo sapiens (human)
DOID:7465	chronic NK-cell lymphocytosis Aliases: NK-cell large granular Lymphocyte Lymphocytosis	B3GAT1 FCGR3B KLRD1 NCAM1	2215 27087 3824 4684	Homo sapiens (human)
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	ABO ACE CEACAM5 FH FUT4 GFRA4 MCAT NTM PTEN SDHB SDHC SDHD	1048 1636 2271 2526 27349 28 50863 5728 6390 6391 6392 64096	Homo sapiens (human)
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ABO ACACA ACE AGK AGPS AKR1C2 ALOX12 ALOX15 AMACR ANXA5 APRT ARSA ASAH1 BAAT CAT CD1D CD44 CD74 CD93 CEACAM5 CNTN1 CYB5R3 CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP3A4 DCN DPEP1 ENPP2 FH FUCA1 G6PD GAPDH GFRA1 GLB1 GPC3 GPD2 GPLD1 GPX1 GPX3 GUSB HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL1R1 INPP4B KL KLB L1CAM LDHA LGALS16 LGALS1 LGALS3 MBL2 MICA MINPP1 MRC1 MUTYH NAMPT NCAM1 NTHL1 PARP1 PARP4 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2R1 PRKAA2 PTEN PTGDS PTGES2 PTGES3 PTGS1 PTGS2 QPRT RECK RPIA SCD SDC1 SDC2 SDC4 SDHB SDHC SDHD SIRT4 SLC2A3 SMUG1 SOAT1 SORD SPHK1 TKTL1 ULBP2 UPP1 VCAN VTCN1	100507436 10135 1048 10728 10855 1272 142 143 1462 148003 152831 1543 1555 1576 1588 1591 1594 1634 1636 1646 1727 1800 2271 22918 22925 22934 23409 23475 23583 23600 239 246 2517 2539 2597 2674 2719 2720 27306 28 2820 2822 2876 2878 2990 308 31 3251 3339 3383 3417 3418 3425 3482 353 3554 3897 3939 3956 3958 410 4153 427 4360 4595 4684 4913 5168 5209 5290 5291 5293 5294 5315 5563 55750 570 5728 5730 5742 5743 6319 6382 6383 6385 6390 6391 6392 6515 6646 6652 7378 79679 80142 80328 8277 8434 847 8540 8821 8877 912 9365 9562 960 972	Homo sapiens (human)
DOID:14525	Reye syndrome Aliases: Reye's syndrome	ABO ACACA ACADM ACADS ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CPT2 CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HADHA HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 1376 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3030 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 34 3417 3418 346606 3482 35 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0070125	congenital nongoitrous hypothyroidism 5 Aliases: CHNG5	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	NCAM1 SFTPD TNF	4684 6441 7124	Homo sapiens (human)
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	ALDH5A1 ME2 NPL	4200 7915 80896	Homo sapiens (human)
DOID:0110516	autosomal recessive nonsyndromic deafness 65 Aliases: DFNB65 autosomal recessive deafness 65	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ACE ANXA5 CALR GLUL INS L1CAM MSLN PDHX TYMP UGP2 VTCN1	10232 1636 1890 2752 308 3630 3897 7360 79679 8050 811	Homo sapiens (human)
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT1 BST1 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPNMB GPX1 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LGALS1 LGALS3 LGALS4 LYPD5 MAG MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PRKAA2 PRNP PSAP PTEN PTGES3 PTGES PTGS2 RENBP RGMA RTN4R SARM1 SCD SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST8SIA4 STBD1 SUCLA2 SYNJ1 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10908 1103 1116 1118 11332 11343 125 126 127 1272 131 1312 132789 142 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 217 2194 2203 2208 2215 22876 22933 23098 23205 23583 2539 2571 2572 2581 2583 2588 2597 26232 2629 2673 27036 27087 2717 2720 27306 27349 2752 283871 284348 2876 2923 3037 3073 308 3098 3099 31 3383 3425 3482 353 3897 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 51477 51478 5160 51763 5230 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5563 5621 5660 56963 57103 5728 5743 57704 5973 6319 64116 64132 6470 6472 6476 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8803 8867 8987 9197 929 9365 952 9536 960	Homo sapiens (human)
DOID:0060165	Kleine-Levin syndrome	COMT SMUG1	1312 23583	Homo sapiens (human)
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 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 CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 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 ME1 MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD 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 UGT2B7 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 1584 1585 1586 1591 1594 1605 1634 1636 170384 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 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 2739 28 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 4199 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 6646 6652 684 7108 729920 7364 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 952 960 9672 972 98	Homo sapiens (human)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	Homo sapiens (human)
DOID:12157	aseptic meningitis Aliases: acute aseptic meningitis	ACE ENO2 ICAM1 MRC1 TPI1	1636 2026 3383 4360 7167	Homo sapiens (human)

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