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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 **4401 - 4425** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0110755	type 1 diabetes mellitus 18 Aliases: IDDM18 Insulin-Dependent Diabetes Mellitus 18	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)
DOID:0110750	type 1 diabetes mellitus 11 Aliases: IDDM11 Insulin-Dependent Diabetes Mellitus 11	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)
DOID:0110754	type 1 diabetes mellitus 17 Aliases: IDDM17 Insulin-Dependent Diabetes Mellitus 17	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)
DOID:0110753	type 1 diabetes mellitus 15 Aliases: IDDM15 Insulin-Dependent Diabetes Mellitus 15	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)
DOID:0110746	type 1 diabetes mellitus 7 Aliases: IDDM7 Insulin-Dependent Diabetes Mellitus 7	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)
DOID:0110761	type 1 diabetes mellitus 24 Aliases: IDDM24 Insulin-Dependent Diabetes Mellitus 24	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)
DOID:0110760	type 1 diabetes mellitus 23 Aliases: IDDM23 Insulin-Dependent Diabetes Mellitus 23	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)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	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 INS 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 3630 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)
DOID:758	situs inversus Aliases: Complete transposition Laterality sequence situs inversus viscerum	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 NTHL1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SDHC SDHD SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SORD SRD5A3 SULT1E1 TECR TGDS TKT TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4913 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6391 6392 6470 6519 6614 6652 6718 6783 7086 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ANXA5 ARSD ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD55 CD74 CEACAM5 CHI3L1 CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT ENO1 ENO2 ENO3 EXT1 EXT2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 SCD SDC1 SELL SELP SIAE SIGLEC1 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 1048 10747 10855 11141 1116 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2215 2219 2220 2271 22914 22925 23205 23274 2350 23583 2517 2519 2523 2524 2542 2571 2572 2597 2645 2719 27306 2752 28 2821 2876 29071 308 3098 3251 3339 3383 3417 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5336 5337 54414 5563 56848 56913 57124 57126 5716 5728 5743 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 847 8505 8807 8809 8877 912 9173 929 933 952 960 972 9993	Homo sapiens (human)
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ANXA5 ARSD ASAH2 ATP6AP2 B3GAT1 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEACAM5 CEL CHI3L1 CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT EBP ENO1 ENO2 ENO3 EXT1 EXT2 FASN FCER2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYPLA1 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MLYCD MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PARP9 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 SCD SDC1 SELL SELP SIGLEC1 SLC27A5 SLC35B2 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 10434 1048 1056 10682 10747 10855 10998 11141 1116 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2194 2208 2215 2219 2220 2271 22914 22925 23205 23274 23417 2350 23583 2517 2519 2523 2524 2542 2571 2572 2597 2645 27087 2719 27306 2752 28 2821 2876 29071 308 3098 3161 3251 3339 3383 347734 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5336 5337 5563 56624 56848 56913 57124 57126 5716 5728 5743 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 83666 847 8505 8807 8809 8877 912 9173 929 933 952 960 962 972 9993	Homo sapiens (human)
DOID:2914	immune system disease	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ALOX5 ANXA5 ARSD ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD55 CD74 CEACAM5 CHI3L1 CLC CLEC12A CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT ENO1 ENO2 ENO3 EXT1 EXT2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAL3ST1 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HPGDS HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 RENBP SCD SDC1 SELL SELP SIGLEC1 SLC35A1 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 1048 10559 10747 10855 11141 1116 1178 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 160364 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2215 2219 2220 2271 22914 22925 23205 23274 2350 23583 240 2517 2519 2523 2524 2542 2571 2572 2597 2645 2719 27306 2752 28 2821 2876 29071 308 3098 3251 3291 3339 3383 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5335 5336 5337 5563 56848 56913 57124 57126 5716 5728 5743 5973 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 847 8505 8807 8809 8877 912 9173 929 933 9514 952 960 972 9993	Homo sapiens (human)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ABO ACAN ACE ACHE ACOT7 ACSL1 ADH5 ADIPOQ 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 CEL CEPT1 CHAT CHI3L1 CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FADS2 FASN FCER2 FCGR3B FCN2 FKRP FUCA1 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 IGF2 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 INS IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PDX1 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 TLR2 TLR4 TM7SF2 TNF UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 1056 10724 10747 10855 1103 1116 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 2517 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 3481 3482 353 3554 3630 3635 3636 3651 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 43 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 7097 7099 7108 7124 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9370 9415 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	ABO ACAN ACE ACHE ACO2 ACOT7 ADIPOQ AGA AKR1B1 ALOX15 ALOX5 AMACR AMT ANXA5 APRT ARSA ARSF ATP6AP2 B3GAT1 B4GALT5 B4GALT6 BST2 CANX CAT CD14 CD177 CD1D CD38 CD44 CD48 CD74 CEACAM5 CEACAM7 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CHIT1 CLEC12A CLEC16A CLEC4E CNTN1 COLEC12 COMT CPT1A CSGALNACT1 CSGALNACT2 CYP17A1 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 CYP3A4 CYP46A1 CYP7A1 CYP7B1 DCN DHCR24 DHCR7 DHRS11 DLD ENO1 ENPP2 FCGR3B FH FOLR2 GAD1 GAD2 GALC GANAB GAPDH GBE1 GLA GLO1 GPC5 GPI H6PD HPGDS HPRT1 HPSE HSD17B6 HSD17B7 ICAM1 ICAM5 IGF2 IL18R1 INPP4B ISYNA1 ITLN1 KL KLRB1 KLRC1 KLRD1 KLRK1 LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LPL MAG MANBA MASP1 MASP2 MBL2 MGAT1 MGAT5 MICA MMP25 MOGAT1 NCAM1 NCAN NT5E OGG1 OLR1 PARP1 PC PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLD1 PPT2 PRNP PSMD10 PTGES PTGS2 QTRT1 RGMA RGMB RTN4R SDC1 SELE SELP SEMA7A SGPL1 SHMT1 SIGLEC1 SIRT2 SLC2A4 SMPD1 SOAT1 SPHK1 SPHK2 ST8SIA1 SUMF1 TALDO1 TKT TLR4 TMED5 TNF TNFRSF10C TPI1 VCAM1	100507436 10159 1048 10747 10855 10858 1087 1103 1113 1116 1118 11332 116255 120227 1272 1312 1374 142 1463 151056 1545 1555 1557 1559 1576 1581 1586 1589 1591 1593 1594 160364 1634 1636 1717 1718 1738 175 176 2023 2215 2262 2271 22914 22933 231 23193 23274 2350 23600 240 246 253782 2571 2572 2581 2597 26253 2632 27087 2717 27306 2739 275 28 2821 285362 285704 29956 308 3251 3383 3481 353 3820 3821 3824 3906 3939 3956 3958 3964 3965 4023 4099 410 4126 4153 416 4245 4249 43 4684 4907 4968 4973 50 5091 50999 5105 51477 51478 5168 5290 5291 5293 5294 5319 5320 5321 5337 55454 55600 55790 5621 5648 56848 56963 57126 5716 57214 5743 6382 6401 6403 64386 6470 6489 65078 6517 6609 6614 6646 684 6888 7086 7087 7099 7124 7167 7412 79154 7941 81035 81890 821 8398 847 8482 8630 8794 8809 8821 8877 8879 9023 912 929 9331 9334 9365 9370 9374 9420 952 9536 9563 960 962 972	Homo sapiens (human)
DOID:12531	von Willebrand's disease Aliases: vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease	ABO ACADVL ATP6V0A2 BAAT CANX GPI HADHA HPSE OTOA PDIA3 SACM1L SELP	10855 146183 22908 23545 28 2821 2923 3030 37 570 6403 821	Homo sapiens (human)
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACADVL ACE ACSS2 AKR1B1 ALDH7A1 ALOX12 ALOX5 ANXA5 APRT ARSA ASAH1 BAAT BST1 CALR CAT CD14 CD248 CD44 CD55 CD74 CEACAM5 CEL CEMIP CHI3L1 CHST7 CLEC1B CLEC6A CLEC7A CLEC9A COLEC11 CRPPA CTSA CYP1A1 CYP1A2 CYP2B6 CYP2E1 DEGS1 EPHX2 FCGR3B FCN2 FDPS FUT2 GLA GPX1 HACD1 HPGDS HSD11B1 ICAM1 IGF2R IL1R1 ISYNA1 ITLN1 KLRB1 LCLAT1 LCT LGALS3 LGALS9 MASP2 MBL2 MCEE MICA MPPE1 MRC1 NAAA NAMPT PARP1 PARP9 PIGW PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLD1 PLD2 PNP PTGDS PTGES PTGS1 PTGS2 REG3G RENBP SDC1 SDC2 SDC4 SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIGLEC8 SLC17A5 SLC27A5 SLC2A10 SLC35A1 SLC5A1 SMC3 SMPD1 SMPD2 SMUG1 SPHK2 ST8SIA4 STS SULF1 TM7SF2 UGCG VCAM1 VCAN	100507436 10135 1048 10559 1056 10747 10998 1116 130120 142 1462 1543 1544 1555 1571 1604 1636 200576 2053 2215 2220 2224 231 23213 23583 23659 239 240 2524 253558 26503 27163 2717 27181 27306 28 283420 284098 2876 308 3290 3383 3482 353 3554 37 3820 3938 3958 3965 410 412 4153 427 4360 4860 501 51266 51477 5290 5291 5293 5294 5310 5319 5320 5321 5322 5337 5338 5476 55600 55902 56548 56848 570 57124 57214 5730 5742 5743 5973 6382 6383 6385 6402 6403 6440 6441 64581 6523 65258 653509 6609 6610 683 7108 729238 729920 7357 7412 78989 7903 81031 811 83666 8398 84693 847 8482 8560 8879 9126 9200 929 93978 9536 960 972	Homo sapiens (human)
DOID:2723	dermatitis Aliases: eczema skin inflammation	ABO ACADVL ACE ACHE AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX12B ALOX15 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD14 CD44 CD48 CD55 CD74 CERS3 CERS4 CHGA CHI3L1 CHST3 CLEC10A CLEC16A CLEC7A COL9A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 DHCR7 ELOVL1 ELOVL3 ELOVL6 ENO1 FADS1 FADS2 FAR1 FAR2 FCER2 FDFT1 FUT2 FUT7 GLB1 GLUL HAS3 HPGDS HPSE HSD11B1 ICAM1 ICAM5 IL18R1 IL1R1 IL1RL1 IL1RL2 INPP5D ITLN1 LCLAT1 LGALS1 LGALS3 LGALS9 LPIN2 MBL2 MGLL MRC1 NAAA NPL OGA PARP1 PCCA PCCB PGD PGM3 PIGX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2E PLA2G4A PLA2G4D PLA2G7 PLAUR PLB1 PLCB3 PLD3 POFUT1 PTGDS PTGS2 SDC1 SELE SELP SIGLEC7 SLC17A5 SLC2A2 SLC35D1 SLC35G1 SLC39A8 SOAT1 SRD5A3 STS TMTC2 TNF TPI1 UGT1A9 VCAM1	10462 10724 10855 1113 1116 11343 120227 1298 135228 142 151056 1591 1593 159371 1594 160335 1604 1636 1717 189 2023 204219 2208 2222 224 23169 23274 23509 23646 240 242 246 2524 2529 253558 26503 27036 27163 2720 27306 2752 28 283748 3038 30814 3290 3383 347527 353 3554 3635 37 3956 3958 3965 3992 412 4153 43 432 4360 501 5095 5096 5226 5238 5290 5291 5293 5294 5319 5321 5329 5331 54600 54965 55600 55711 5730 5743 6382 6401 6403 64116 64581 64834 6514 6646 7087 7124 7167 7412 79071 7941 79603 79644 80896 811 83401 84188 847 8644 8808 8809 9173 929 9415 9469 960 962 9663 972	Homo sapiens (human)
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	ABO ACADS ACE ACHE ACOT7 ACSL4 ACSL6 ACSS2 ADH1B ALDH2 ALDH5A1 ALDH7A1 ALG9 ARSA ARSB ARSD B3GAT1 CACNA2D4 CALR CD22 CDH13 CHAT CHI3L1 CHPT1 CNTN4 COMT CYP27B1 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DHDDS EPM2A EXT1 G6PD GAD1 GAD2 GALNS GLUL HPGDS HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 LGALS3 MACROD2 MAG MANEA ME2 MGAT1 MICA NCAM1 NPL PAFAH1B1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PLA2G1B PLA2G4A PPT1 PRNP PTEN PTGDS PTGS2 RGMA RTN4R SDC2 SLC27A5 SMPD1 SMUG1 SPTLC1 SRGN ST3GAL1 ST8SIA2 TMTC1 VCAM1	100507436 1012 10558 10998 1103 1116 11332 123099 125 1312 140733 152330 1555 1557 1577 1594 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 27306 2752 28 3290 3339 3383 3417 3425 35 3958 4099 410 411 414 4200 4245 43 4684 501 5048 51144 51477 51763 5286 5297 5305 5319 5321 55300 5538 5552 55902 5621 56963 56994 5728 5730 5743 6383 6482 65078 6609 7412 7915 7957 79694 79796 79947 80896 811 8128 83857 8560 933 93589 9487	Homo sapiens (human)
DOID:9266	cystinuria	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:2862	glucosephosphate dehydrogenase deficiency Aliases: Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:2747	glycogen storage disease Aliases: glycogenosis	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PFKP PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKG2 PRKAG2 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 51422 5211 5213 5214 5224 5230 5236 5255 5256 5261 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CD14 CYP4F3 CYP51A1 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALM GALT GBE1 GK GLA GP2 GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PTEN PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 SLC5A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	130589 1595 178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2710 2717 27306 28 2813 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 5728 57818 5836 5837 6476 6514 6519 6523 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 929 9526	Homo sapiens (human)
DOID:2749	glycogen storage disease Ia	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT ARSA CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC2A4 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 410 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6517 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)

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