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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 **2401 - 2425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5172	endometrium carcinoma in situ Aliases: carcinoma in situ of endometrium endometrial carcinoma in situ	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	ABO FUT1 G6PD GUSB HPSE2 LMAN1 MCFD2 MRC1 PRNP	2523 2539 28 2990 3998 4360 5621 60495 90411	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4837	Gorham's disease Aliases: Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease	APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MGAM PYGL PYGM SI SLC37A4 SMUG1	1581 23583 2538 2542 2632 2992 2998 353 5836 5837 6476 8972	Homo sapiens (human)	DisGeNET
DOID:0110132	Bardet-Biedl syndrome 10 Aliases: BBS10	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:3772	intraventricular meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)	DisGeNET
DOID:0110742	type 1 diabetes mellitus 3 Aliases: IDDM3 Insulin-Dependent Diabetes Mellitus 3	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2685	ossifying fibromyxoid tumor Aliases: Ossifying Fibromyxoma ossifying fibromyxoid tumour	ENO2	2026	Homo sapiens (human)	DisGeNET
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)	DisGeNET
DOID:9849	Meniere's disease Aliases: Meniere disease Mnire's vertigo Otogenic vertigo	FCGR3B HPGDS MICA NT5E PARP1	100507436 142 2215 27306 4907	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110255	cataract 5 multiple types Aliases: CTRCT5	AGK ALDH7A1 B3GAT1 CEACAM5 COG4 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 ICAM1 INPP5K LSS OCRL PTEN SLC33A1 SORD	1048 1593 2262 25839 2584 2651 27087 3383 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	ACACA CNTN2 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 31 5290 5291 5293 5294 5743 6900	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	ABO ACACA ACAT1 ACE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALOX15 ALOX15B ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 B3GNTL1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHODL CHPT1 CHST7 CNTN1 COMT CRLS1 CRYBG3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FASN FBP1 FCN2 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GLB1 GLCE GLDC GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 GUSB HADHA HAS2 HK1 HK2 HKDC1 HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HSPG2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKA ITPKB KL KLRB1 KLRK1 L1CAM LAYN LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYNX1 LYPD5 MBD4 MBL2 MCAT ME1 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGA OGG1 PAFAH1B1 PARG PARP1 PCK2 PCYT1A PFKFB3 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP4 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SELP SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A3 SLC33A1 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 THEM4 TIGAR TM7SF2 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1 YDJC	100507436 100861540 1012 10159 10232 10327 1048 10682 10690 10724 10855 1087 1103 1116 11181 1119 1120 11332 11343 117145 125 126 1272 128 130120 1312 131544 135228 140578 142 143903 1462 146712 150223 151056 152002 1543 1544 1545 1551 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1890 1942 196051 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 231 23175 23205 23213 23409 2348 2350 23509 23583 23600 242 246 247 248 250 2523 2524 2525 2526 2527 2529 252969 2530 253782 2539 2571 2581 2585 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 27087 2719 2720 27248 27294 27306 2731 27349 28 2821 284348 2876 2877 2878 2990 3030 3037 307 308 3098 3099 31 3251 3291 3292 3339 3383 3384 3417 3418 3482 353 3612 3635 3706 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 4023 4051 410 412 4153 4199 427 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 501 5048 5106 51196 5130 51477 51548 5167 5168 5209 5226 5230 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5333 5335 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 6403 64083 6440 6441 6470 6472 6480 6515 653509 66004 6646 670 6713 6783 683 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8871 8877 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 945 952 9536 960 972 98 9956	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ABO BAAT HPSE	10855 28 570	Homo sapiens (human)	DisGeNET
DOID:3665	diffuse cutaneous mastocytosis	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)	DisGeNET
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060346	Native American myopathy Aliases: Bailey-Bloch congenital myopathy congenital myopathy 13	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:8580	obsolete malignant histiocytosis Aliases: Stewart's granuloma	ABO ANXA5 CD14 CLEC10A FCGR3B KLRD1 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SOAT1 TMTC3	10462 160418 2215 28 308 3824 4069 4684 5290 5291 5293 5294 5728 6646 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	ALDH5A1 ASAH1 CACNA2D2 GAD2 GLDC GMPPB MCAT ME2 NPL SLC2A3	2572 2731 27349 29925 4200 427 6515 7915 80896 9254	Homo sapiens (human)	DisGeNET DisGeNET

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