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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 **5551 - 5575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4644	epidermolysis bullosa simplex	GALK1 PLOD3	2584 8985	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080998	acute necrotizing pancreatitis	ICAM1 PDX1 SELP TBXAS1 TLR2 TLR4	3383 3651 6403 6916 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:3222	causalgia Aliases: Complex regional pain syndrome, type II	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:1024	leprosy	ACACA ACOT7 AKR1B10 CD14 CD209 CEACAM5 CLEC9A CYP19A1 CYP2E1 FCN1 FCN2 FCN3 GAL3ST4 HSD11B2 IL18R1 IL1RL1 LGALS3 LTA4H MASP2 MBL2 MICA MRC1 NCAM1 NTM PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC4 SDHD SFTPD SIGLEC5 SMPD2 SMPD3 SOAT1 STS TLR1 TLR2 TNF	100507436 1048 10747 11332 1571 1588 2219 2220 283420 30835 31 3291 3958 4048 412 4153 4360 4684 50863 5105 5290 5291 5293 5294 55512 57016 5728 5743 6385 6392 6441 6610 6646 7096 7097 7124 79690 8547 8778 8809 9173 929	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	GALNT3 GOLPH3	2591 64083	Homo sapiens (human)	DisGeNET DisGeNET
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:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS ACADSB DLD	1738 35 36	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9088	parapsoriasis	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)	DisGeNET
DOID:0110470	autosomal recessive nonsyndromic deafness 15 Aliases: DFNB15 DFNB72 DFNB95 autosomal recessive deafness 15 autosomal recessive deafness 72 autosomal recessive deafness 95	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)	DisGeNET
DOID:9360	intrinsic asthma Aliases: non-atopic asthma	ABO ACAA1 ACE ACHE ACOT7 ACSL3 ADH1B ADH5 AGXT AKR1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALOX15 ALOX15B ALOX5 ALPL ANXA4 ANXA5 APRT ARSA ATRN B3GAT1 BST1 CAT CD14 CD1D CD33 CD38 CD44 CD48 CD93 CDH13 CEACAM5 CEACAM6 CEL CHAT CHI3L1 CHIA CHIT1 CHST8 CLC CLEC10A CLEC16A CLEC4E CLEC7A COG6 COL9A2 COMT CRYBG1 CTSA CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 DAD1 DAG1 DCN DGKB DGKE DGKG DGKH EBP EFNA1 ENO1 ENO2 ENPP1 FADS1 FADS2 FCER2 FCGR3B FUT2 G6PD GALNT17 GAPDH GAS1 GFRA4 GGT1 GLA GLB1 GLDC GLT1D1 GNPDA2 GPX1 GPX3 HACD1 HAS2 HEXB HPGDS HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LGALS1 LGALS3 LGALS9 LIPA LIPG LPCAT1 LPCAT3 LPIN2 LTA4H LTC4S LYNX1 MANBA MBL2 MRC1 NT5E OGG1 ORMDL1 ORMDL2 OTOG PAFAH1B1 PARP14 PARP1 PARP9 PDIA3 PGAP3 PGD PGM3 PGP PIGX PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLA2R1 PLAUR PLB1 PLCG1 PLD1 PNPLA3 PRG2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RGMB SCD SDC4 SDHD SELE SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A10 SLC33A1 SMC3 SMPD1 SOAT1 ST6GAL1 STS TALDO1 TBXAS1 TM7SF2 TMTC2 TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10462 1048 1056 10682 10998 1103 11141 1116 1118 11332 1178 120227 125 128 1298 1312 132789 142 144423 151056 1543 1544 1545 1551 1555 1557 1558 1571 1573 1576 1577 1583 1591 1593 1594 1603 160335 1605 1607 1608 160851 1634 1636 189 1942 202 2023 2026 217 218 2181 2208 2215 224 22918 22925 22933 231 23274 240 246 247 249 2524 2539 2597 2619 26253 26503 2678 27087 27159 2717 27180 27181 2720 27306 2731 28 283871 285704 2876 2878 29095 2923 30 3037 307 3074 308 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3956 3958 3965 3988 3992 4048 4051 4056 410 412 4126 4153 43 4360 4680 4907 4968 501 5048 51477 51548 5167 5226 5238 5290 5291 5293 5294 5319 5320 5321 5329 5335 5337 54578 54625 54658 54659 5476 54965 5553 55600 5621 5728 5730 5742 5743 57511 6319 6385 6392 6401 6402 6403 64096 64377 6440 64409 6441 64581 6480 653509 66004 6609 6614 6646 683 6888 6916 7108 7167 729238 7412 7941 79888 80339 81031 83666 8395 8398 8399 8455 847 8526 8605 8807 8809 8876 912 9126 9173 9197 9200 929 93210 9388 94101 9415 945 952 9536 960 962 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	ACE APRT CALR3 GLA GNS HGSNAT ICAM1 NAGLU PKD1 PNPLA3 PRKAA2 SGSH	125972 138050 1636 2717 2799 3383 353 4669 5310 5563 6448 80339	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)	DisGeNET
DOID:0070142	autosomal dominant cutis laxa Aliases: ADCL	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1558	angioedema Aliases: Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria	ABO ACE AGXT ALDH3A2 ALOX5 ARSA BST2 CAT CD38 DGKG ELOVL4 FCGR3B GPX1 HPGDS ICAM1 LTC4S MASP2 MBL2 PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCG1 PLCG2 PTGS2 SDHB SDHC SELE SMUG1 VCAM1 XPNPEP2	10747 1608 1636 189 2215 224 23583 240 27306 28 2876 3383 4056 410 4153 51604 5290 5291 5293 5294 5321 5335 5336 5743 6390 6391 6401 6785 684 7412 7512 847 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5855	anteroseptal myocardial infarction	ACE CAT LGALS3 SLC2A4	1636 3958 6517 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ACLY ACSL4 ADH1C AGRN AKR1A1 AKR1B10 AKR1C2 ALDH1A3 ALDH3A1 ALDOA ALOX12B ALOX5 AMY1A AMY1B AMY1C ANXA5 APRT B4GALT1 CALR CANX CAT CD44 CD74 CEACAM5 CEACAM6 CEACAM7 CLEC10A CLEC14A CNTN1 CPM CTSA CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 DCN DGKA DHDDS DLD EFNA1 ENO1 ENO2 FASN FOLR2 FUT1 FUT2 FUT3 FUT4 G6PD GAD1 GALK2 GALNT14 GALNT3 GALNT6 GAPDH GBE1 GLB1 GMDS GPC1 GPC3 GPC5 GPI GPX2 GPX3 GUSB HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 ICAM1 IDH1 IDH2 IDH3A IGF2R ISYNA1 LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LPCAT1 LPIN1 LPL LYPD5 MCAT MELTF MGLL MICA MMUT MRC1 MTAP NCAM1 OGG1 OLR1 OPCML PAFAH1B1 PARG PARP1 PFKFB3 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G10 PLA2G2A PLAUR PLB1 PLCG1 PMM2 PRKAA2 PRNP PTEN PTGES3 PTGS2 RECK REG1B RGN RTN4R SCD SDC1 SDC2 SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SIRT6 SLC2A10 SLC2A3 SLC2A5 SLC35A4 SLC3A2 SMUG1 SOAT1 SRGN SULF1 SULF2 TIGAR TM7SF2 TNKS TPI1 UGT1A3 UGT2B17 UGT8 VCAM1 XXYLT1	100507436 10327 10462 1048 10728 10855 1087 11226 11343 113829 126 1272 1368 142 151056 152002 1543 1544 1545 1555 1571 1576 1577 1588 1589 1591 1606 161198 1634 1646 1738 1942 2023 2026 218 2182 2194 220 226 2262 23175 23213 2350 23556 23583 240 242 2523 2524 2525 2526 2539 2571 2585 2591 2597 2632 2683 2719 2720 27306 27349 276 2762 277 278 2817 2821 284348 2877 2878 2990 308 3098 3099 3161 3251 3383 3417 3418 3419 3482 353 375790 3939 3945 3948 3956 3958 3960 4023 4241 4360 4507 4594 4680 4684 47 4968 4973 4978 5048 51477 51548 5209 5290 5291 5293 5294 5311 5315 5320 5329 5335 5373 54659 5476 5552 5563 55959 5621 57016 57103 5728 5743 5968 6319 6382 6383 6403 6440 6441 6470 65078 6515 6518 6520 653509 6646 7108 7167 729238 7367 7368 7412 79623 79888 79947 81031 811 821 8399 8434 847 8482 8505 8658 90161 9104 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	ABO ACACA ACE ACHE ACLY ACOT7 ACSL3 ADH1A ADH1B ADH4 ADPRH AGPAT2 AKR1C1 AKR1C3 AKT1 ALDH2 ALDH5A1 ALOX12 ALOX12B ALOX15 ALOX5 ALPP ANXA4 ANXA5 ANXA7 APEX1 ARF4 B4GALNT1 B4GALNT3 B4GALNT4 BDH2 BPHL BST1 C1GALT1 CALR CAT CBR1 CBR3 CD14 CD248 CD33 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHKA CHPT1 CHST11 CHST15 CHST3 CLEC10A CLEC14A CNTN2 CNTN4 COMT CPT2 CS CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 DCN DHCR24 DHDDS DPEP2 ECHDC1 EFNA1 ENOSF1 ENPP2 FASN FBP1 FCN2 FCN3 FOLR1 FOLR2 FUT1 FUT8 G6PC1 GALNT14 GALNT1 GALNT3 GALNT6 GALT GAPDH GBE1 GBGT1 GCNT3 GFPT2 GGT1 GLB1 GOLPH3 GPC1 GPC3 GPC5 GPC6 GPI GPX1 GPX3 GPX6 GUSB HACD1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B7 HSPG2 HYAL1 ICAM1 IDH1 IDH2 IDS IGF2R IL1R1 IMPA1 INPP4B IPMK KL KLRK1 L1CAM LCAT LDHA LGALS1 LGALS3 LGALS8 LY75 MAN1A1 MASP2 MBL2 MCAT MGAT3 MICA MRC1 MSLN MUTYH NCAM1 NEU1 NEU3 NT5E OGA OGG1 OPCML OVGP1 PARG PARP1 PCYT1A PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLAAT3 PLAUR PLB1 PLCG1 PLCZ1 PLPP1 PNP PNPLA2 PPAT PRKAA2 PRNP PRSS21 PRSS41 PRSS8 PSAP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SDC1 SELP SFTPD SHMT1 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SRD5A2 ST3GAL1 ST6GAL1 ST6GALNAC1 STS SULF1 SULT1E1 TFF1 TIPARP TKT TM7SF2 TNF TNFRSF10C TNKS TUSC3 TYMP UGCG UGT1A1 UGT2A1 UGT2A2 UMOD VCAM1 VCAN VTCN1	100507436 10082 1012 10232 10462 1048 10555 10724 10747 10825 10855 1087 10941 10942 11145 1116 1119 11226 11332 124 125 127 1312 1376 141 142 1431 1462 151056 152330 1543 1544 1545 1555 1558 1576 1577 1586 1588 1594 1604 161198 1634 1636 1645 1718 1890 1942 207 217 2181 2194 2203 2220 2262 22914 22933 23213 2348 2350 23583 239 240 242 246 250 2523 2530 253430 2538 257202 2583 2589 2591 2592 2597 25976 26301 2632 2678 2719 2720 27306 27349 28 2817 2821 283358 2876 2878 2923 2990 307 308 3099 31 310 3161 3251 328 3291 3292 3294 3339 3373 3383 338707 3417 3418 3423 3482 3554 360226 3612 378 3897 3931 3939 3956 3958 3964 4065 412 4121 4153 4248 43 4360 4595 4680 4684 47 4758 4860 4907 4968 4978 5016 50515 51144 5130 51363 51478 51548 5168 5230 5290 5291 5293 5294 5315 5319 5329 5335 54658 5471 55556 5563 55808 55862 5621 5652 5660 56898 56913 56994 57104 57124 57214 5728 5730 5742 5743 574537 5973 6319 6382 6403 64083 64174 6441 6470 6480 6482 6515 6517 6518 6609 6646 670 6716 6783 683 6900 7031 7086 7108 7124 7355 7357 7369 7412 7915 79623 79679 7991 79947 811 847 8505 8547 8611 8644 8658 873 874 8794 8821 8877 89869 9200 9245 929 9365 945 9469 960 9945 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	AACS ABO ACACA ACACB ACADL ACADM ACADVL ACAT1 ACE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ADH1A ADH1B ADH4 ADIPOQ AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1D1 ALDH1A3 ALDH1B1 ALDH2 ALDOB ALOX12 ALOX5 ALPL ALPP APRT ART3 ATP6AP1 ATRNL1 B3GAT1 BAAT CAT CBR1 CD14 CD1D CD44 CDIPT CEL CERS1 CERS2 CERS6 CHIT1 CHKA CHPT1 CMAS CPT1A CPT1B CPT1C CPT2 CS CTSA CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DGAT1 DGAT2 DHDDS DHRS11 DLAT EBP ELOVL2 ELOVL5 ELOVL6 ENO2 ENO3 ENPP1 ETNPPL FADS1 FADS2 FASN FBP1 FCGR3B FDFT1 FOLR2 FUT4 G6PC1 G6PD GCK GGT1 GLB1 GLUL GPAM GPC3 GPD1 GPD1L GPI GPX1 H6PD HACD1 HADH HADHA HADHB HAS3 HJV HKDC1 HPGDS HPSE HSD11B1 HSD17B4 HSD17B7 HSPG2 HTR2A ICAM1 IDH2 INPP5D INS ISYNA1 KDSR KHK KLB LALBA LCAT LEP LGALS3 LIPA LPIN1 LPL MBOAT7 MCAT MGLL MIOX MLYCD MOGAT1 MOGAT3 MPI MRC1 NAAA NAMPT NCAN NEIL1 NEU1 OGT OPCML PARP1 PARP2 PC PCK1 PCK2 PDIA3 PEMT PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLA2G7 PLCG1 PMM2 PNPLA2 PNPLA3 PNPLA6 PPARA PPARGC1A PPP1R3B PPP1R3C PPP1R3G PRKAA2 PSMD10 PTEN PTGS1 PTGS2 REG3G RENBP SARM1 SCD SCP2 SELE SELL SGMS2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A12 SLC2A2 SLC2A4 SLC2A8 SLC35A2 SMPD1 SMUG1 SOAT2 SORD SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA4 STS SULF1 SULT1E1 THEM5 TM7SF2 TMEM199 TREH UCP2 UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1 VNN1 XYLT2	10038 10135 10327 10400 10423 10554 10555 1056 10682 10715 10855 10891 10908 10998 1118 11181 1119 11343 116255 120227 124 125 126129 127 130120 1374 1375 1376 142 1431 1463 147007 148738 152831 154091 1543 1544 1545 1555 1571 1573 1576 1579 1581 1582 1586 1588 1594 1634 1636 1650 166929 1737 2026 2027 217 2180 2182 219 2194 220 2203 2215 2222 229 22933 23098 231 23171 23175 23213 23409 23417 2350 23583 239 240 249 250 2526 2531 253782 2538 2539 26033 2645 26503 2678 27036 27087 27163 2719 2720 27306 27349 2752 28 2819 2821 284486 2876 2923 29956 29988 3030 3032 3033 3038 31 32 3290 3295 33 3339 3356 3383 34 3418 346606 353 3630 3635 37 3795 38 3906 3931 3952 3958 3988 3992 4023 4051 412 419 4351 4360 47 4758 4978 5091 51 5105 5106 51477 51478 51548 5167 51703 5236 5290 5291 5293 5294 5315 5335 537 5373 54575 54576 54577 54578 5465 54657 5476 54898 5507 55586 5563 55902 55907 56848 56994 570 57016 57104 5716 5728 5742 5743 57678 5973 60481 6319 6342 6401 6402 64132 6480 6484 64850 648791 6514 6517 65985 6609 6614 6652 6713 6718 6783 7108 7351 7355 7357 7363 7412 7903 79071 79143 79154 7941 79660 79661 79947 80201 80339 8398 8435 84649 847 8473 8529 8694 873 8876 912 9200 929 9370 9415 9420 9563 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2529	splenic disease Aliases: Dyssplenism Spleen disease	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13477	balanitis xerotica obliterans Aliases: Penile Lichen Sclerosus	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)	DisGeNET
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ARSA ARSI BAAT CD44 CEACAM5 CEACAM7 COMT CYP17A1 CYP1A1 CYP1B1 IGF2R MRC1 MUTYH NDUFAB1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	1048 1087 1312 142 1543 1545 1586 340075 3482 410 4360 4595 4706 5290 5291 5293 5294 570 5728 5743 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	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)	DisGeNET
DOID:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	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)	DisGeNET
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources

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