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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 **2001 - 2025** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)
DOID:0080633	developmental cardiac valvular defect	PLD1 PLD2	5337 5338	Homo sapiens (human)
DOID:9923	developmental coordination disorder	ACADSB ACAT1 AGK AGRN ALDH5A1 ALG14 ALG2 ARSD ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 CAT CHAT CHKB CHST14 CHST3 COG4 COG5 CRPPA CYP27B1 CYP2R1 CYP2U1 DAG1 DGKK DPAGT1 EXT2 EXTL3 FKRP FKTN GBA1 GFPT1 GMPPB HACD1 HADH HADHA HADHB HGSNAT HIBCH HPRT1 INPP5K LARGE1 LMAN2L MAN1B1 MBOAT7 MTMR14 MTMR2 NDST1 OGG1 PGAP1 PIGC PNP PNPLA2 POMGNT1 POMK POMT1 POMT2 PRPS1 PTEN SDHA SDHB SDHD SRD5A3 ST3GAL3 TECR TUSC3	10159 10466 10585 1103 1120 11253 113189 113612 120227 138050 139189 148789 1594 1605 1798 199857 2132 2137 2218 23545 25839 26275 2629 2673 29925 29954 3030 3032 3033 3251 3340 36 375790 38 414 427 4860 4968 51763 523 5279 55624 55750 5631 57104 5728 6389 6390 6392 64419 6487 729920 79143 79147 7915 79644 7991 80055 81562 84197 847 85365 8898 9200 9215 9469 9524	Homo sapiens (human)
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	CFC1 FKTN GPC3 HSPG2 PIGL	2218 2719 3339 55997 9487	Homo sapiens (human)
DOID:9565	dextrocardia Aliases: Heart predominantly in right hemithorax	INPP5E PKD1 TGDS	23483 5310 56623	Homo sapiens (human)
DOID:9409	diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:9351	diabetes mellitus Aliases: diabetes	ABO ACACA ACACB ACADSB ACAT1 ACE ACHE ACLY ACOT2 ACOT7 ACSL1 ACSM3 ACSS2 ADH1B ADH1C AGA AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 ALDH2 ALDH6A1 ALDH7A1 ALDOB ALG1 ALOX12 ALOX5 ALPI ALPL ALPP AMACR AMY1A AMY1B AMY1C ANXA5 APRT ARSA ASAH2 ATP6AP2 ATRNL1 B4GALT5 BAAT C1GALT1 CA4 CALR CANX CAT CBR1 CBR3 CD14 CD1D CD33 CD38 CD44 CD48 CD55 CDH13 CEACAM5 CEACAM7 CEL CERS2 CERS6 CHAT CHGA CHI3L1 CHIT1 CHPT1 CHST3 CLEC16A CLEC1B COG2 COL9A2 COLEC12 COMT CPT1A CPT2 CS CTNS CYB5R4 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4A11 CYP4F3 CYP51A1 CYP7A1 CYP7B1 CYP8B1 DAG1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKB DGKD DGKQ DGKZ DHCR7 DLAT DLD DSE DSEL EBP ELOVL3 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 EXT1 EXT2 FADS1 FADS2 FASN FBP1 FCGR3B FCN3 FDPS FOLR2 FUCA1 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT2 GALNT3 GAPDH GAPDHS GAS1 GBE1 GCK GFPT1 GFPT2 GGT1 GK GLA GLB1 GLO1 GLUL GNPDA2 GNPNAT1 GPAT4 GPC5 GPD1 GPD2 GPI GPIHBP1 GPX1 GPX3 GUSB GYG1 GYS1 H6PD HACD1 HADH HADHA HAS2 HAS3 HGSNAT HJV HK1 HK2 HMGCS2 HPGDS HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B3 HSD17B6 HSD17B7 HSD3B1 HSPG2 ICAM1 IDH3A IDH3B IGF2R IL18R1 IL1R1 IMPA1 INPP5F INPPL1 INS ISYNA1 ITLN1 ITPK1 KCNJ11 KDSR KL KLB KLRK1 L1CAM LARGE1 LDHA LDHB LGALS1 LGALS2 LGALS3 LGALS4 LIPA LIPC LIPG LPIN1 LPIN2 LPL LY75 LYPLA1 LYZ MAN1A1 MAN2A1 MASP1 MASP2 MBL2 MBOAT7 MCAT MDH2 ME1 MGAM MGAT2 MGAT4A MGAT4C MGLL MICA MIOX MLYCD MMUT MOGAT2 MPG MPI MRC1 MSMO1 MTM1 MTMR3 MUTYH NAAA NAGLU NAMPT NANS NCAM1 NDST1 NEIL1 OGA OGG1 OGT OLR1 OXCT1 PAPSS2 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHB PDHX PDX1 PEMT PFKFB2 PFKFB3 PFKM PGM1 PGP PHOSPHO1 PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKD1 PKLR PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB3 PLCD1 PLCG1 PLD1 PMM2 PNLIP PNPLA2 PNPLA3 PNPLA6 POMGNT1 PPP1R3A PPP1R3B PPP1R3C PRKAA2 PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGES2 PTGIS PTGS1 PTGS2 PYGB REG1B RENBP RFT1 RPE RPN2 RTN4R RTN4RL1 SACM1L SCD5 SCD SDC1 SDC2 SDC4 SDHA SELE SELL SELP SFTPA1 SFTPC SFTPD SGMS1 SGSH SI SIGLEC1 SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35B3 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 SRD5A1 SRD5A2 SRGN ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC3 ST8SIA4 STS SUCLA2 SULF2 SULT1E1 TALDO1 THEM4 TKFC TKT TKTL1 TKTL2 TLR4 TM7SF2 TNKS2 TREH TYMP UGCG UGGT2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UMOD UPP1 UPP2 VCAM1 VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10400 10434 1048 10555 10558 10559 1056 10682 10724 10747 10855 10858 1087 10908 10942 10965 1103 1113 1116 1118 11181 11320 11332 11343 117145 120227 123099 125 126 1298 1312 132789 1374 1376 137964 138050 142 1431 146760 148738 1497 151056 151531 152831 1543 1544 1545 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1582 1583 1585 1586 1588 1589 1591 1593 159371 1594 1595 1604 1605 1607 1609 162466 1634 1636 1646 1650 1717 1737 1738 175 1890 2023 2026 2053 2131 2132 217 2180 2194 2203 2215 2224 2262 22796 22876 229 22908 22914 22933 231 23175 23236 23274 23409 23417 2350 23583 23600 23659 239 240 248 249 250 2517 2524 2531 253782 2538 2539 2542 256435 2571 2572 25834 2588 2590 2591 259230 2597 26007 26033 2619 2632 26330 2645 26503 266722 2673 2678 27036 2710 27163 2717 2720 27306 27349 2739 2752 276 277 278 28 2819 2820 2821 283871 2876 2878 2990 2992 29940 29956 2997 3030 3033 3037 3038 308 3098 3099 31 3158 32 3283 3290 3291 3293 3339 3340 3383 338328 3419 3420 3482 353 3554 36 3612 3630 3636 3651 3705 3767 38 3897 3939 3945 3956 3957 3958 3960 3988 3990 3992 4023 4051 4065 4069 410 412 4121 4124 4153 4191 4199 4247 43 4329 4350 4351 4360 4534 4594 4595 4669 4684 47 4968 4973 501 5019 5091 51000 5105 5106 51144 51167 51266 5130 51477 51478 51548 5162 5167 5208 5209 5213 5236 5286 5288 5289 5290 5291 5293 5294 5310 5313 5319 5320 5321 5329 5331 5333 5335 5337 5373 5406 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 5506 5507 5552 55586 55600 55624 5563 55757 55902 55959 56052 5648 5652 56624 56848 56913 56994 570 57016 57104 5716 5728 5730 5740 5742 5743 57818 5834 5968 5973 60481 6120 6185 6296 6307 6319 6382 6383 6385 6389 6401 6402 6403 64116 64131 64132 6440 6441 6448 6476 6480 6484 64841 6487 65078 6513 6514 6515 6517 6518 6519 6523 653509 6609 6614 6646 6652 6715 6716 6718 6783 6785 6888 7086 7099 7108 7357 7366 7369 7378 7412 762 7903 79071 79143 7941 79660 79661 79679 79966 80142 80168 80339 80351 8050 81031 81035 811 821 8277 83401 8395 8398 8399 84076 847 8473 8525 8527 8547 8560 8630 8694 873 874 8778 8803 8809 8877 8897 8972 9060 912 91869 9197 9200 92126 9215 929 9334 9365 9388 9394 9415 9420 945 9468 9469 9514 952 9563 960 962 9663 9945 9993	Homo sapiens (human)
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	ACE AKR1B1 ATP6AP2 CANX CAT GPX1 HPSE ICAM1 LGALS3 PTEN RBP4 RENBP SELL SMPD1 TNF	10159 10855 1636 231 2876 3383 3958 5728 5950 5973 6402 6609 7124 821 847	Homo sapiens (human)
DOID:11503	diabetic autonomic neuropathy	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:13328	diabetic cataract Aliases: Cataract - diabetic	ACE AKR1A1 AKR1B10 AKR1B1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GALK1 GALT GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PRKAA2 PRNP PTEN PTGS2 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TM7SF2 UMOD UPP1 VCAM1	1012 10159 10327 142 1636 217 231 23409 23545 2517 2571 2572 2584 2592 2597 2645 266722 2678 2739 2752 3099 3383 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7108 7369 7378 7412 7903 7941 847 8473 8704 929 9388 972	Homo sapiens (human)
DOID:0050850	diabetic encephalopathy	GSK3B	2932	Homo sapiens (human)
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	ABO ACACA ACACB ACADSB ACAN ACE ACHE ACOT7 ACSL1 ACSM3 ACSS2 ADH1B ADH1C ADH5 AGA AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH2 ATP6AP2 B3GAT1 B4GALNT1 B4GALT1 B4GALT5 BAAT CALR CANX CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEL CEPT1 CERS2 CHAT CHGA CHI3L1 CHIT1 CHST3 CLEC16A CLEC1B COMT CPT1A CPT2 CS CSGALNACT1 CTNS CYB5R4 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKQ DHCR7 DLAT DLD DSE EFNA1 ELOVL3 ELOVL4 ELOVL5 ENO1 ENO2 ENPP1 EXT2 FADS1 FADS2 FASN FBP1 FCER2 FCGR3B FCN2 FDPS FKRP FOLR2 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT3 GAPDHS GAS1 GBA3 GBE1 GCK GFPT1 GGT1 GLA GLB1 GLO1 GLUL GNPNAT1 GPI GPIHBP1 GPX1 GPX3 GUSB GYS1 H6PD HACD1 HAS2 HJV HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B4 HSD17B7 HSD3B1 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPP5F INPPL1 IPPK ISYNA1 ITLN1 ITPK1 KDSR KL KLB KLRC3 KLRD1 KLRK1 LDHB LDHC LGALS1 LGALS2 LGALS3 LGALS4 LIPC LPIN1 LPIN2 LPL LY6G6D LYPD5 LYZ MASP1 MASP2 MBL2 MBOAT7 MDH2 MGAM MGAT1 MGAT2 MGAT5 MICA MIOX MMUT MOGAT2 MPG MPI MTM1 MUTYH NAAA NAGLU NAMPT NCAM1 NDST1 OGA OGG1 OGT OLR1 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHX PEMT PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PIP5K1B PKD1 PKLR PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB3 PLCG1 PMM2 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PRKCSH PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGIS PTGS1 PTGS2 REG1B RENBP RFT1 RTN4R SACM1L SCD SDC2 SDC4 SELE SELL SELP SFTPA1 SFTPC SFTPD SGSH SI SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC33A1 SLC35A1 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA4 STS SUCLA2 SULT1E1 TALDO1 TKFC TKT TKTL1 TKTL2 TM7SF2 TREH UGCG UGT1A1 UMOD UPP1 VCAM1 VCAN VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10390 10400 1048 10554 10555 10559 1056 10724 10747 10855 10942 1103 1113 1116 1118 11181 11332 120227 123099 125 126 128 1312 1374 1376 142 1431 1462 148738 1497 151056 152831 154091 1543 1544 1555 1557 1559 1571 1573 1576 1577 1579 1581 1582 1585 1588 1589 1591 1593 159371 1594 1604 1609 1634 1636 1646 1650 1717 1737 1738 175 176 1942 2023 2026 2132 217 2180 2194 2203 2208 2215 2220 2224 224 22876 22908 22914 22933 231 23175 23236 23274 23409 2350 23583 23659 239 240 247 248 250 2524 2531 2538 2539 2542 2571 2572 2583 2588 2591 26007 2619 2632 26330 2645 26503 266722 2673 2678 2683 27036 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2990 29940 29956 2997 29988 3037 308 30835 3098 3099 31 3158 32 3251 3283 3290 3291 3295 3339 3340 3383 338328 3482 353 3554 36 3635 3636 3705 3823 3824 3945 3948 3956 3957 3958 3960 3990 3992 4023 4069 410 412 4153 4191 4245 4247 4249 43 4350 4351 4534 4594 4595 4669 4684 4968 4973 5091 5105 5106 51167 51266 5130 51477 51478 51548 5167 5209 5236 5290 5291 5293 5294 5310 5313 5319 5320 5329 5331 5335 5373 54658 5506 55586 55600 5563 55790 5589 55902 5648 5652 56624 56848 570 57016 57104 5716 5728 5730 5740 5742 5743 57733 57818 58530 5968 5973 60481 60495 6296 6319 6383 6385 6401 6402 6403 64116 64131 64132 6440 6441 6448 6476 64768 6480 6484 64841 65078 6514 6515 6517 6519 6523 653509 6609 6646 6652 6716 6718 6783 6785 6888 7086 7108 7357 7369 7378 7412 7903 79143 79147 7941 79679 79837 80168 80339 8050 81031 811 821 8277 83401 8395 8398 8399 84076 847 8473 8560 8694 873 8778 8803 8807 8809 8877 8972 912 9173 91869 9197 9200 929 9334 9365 9394 9415 9420 945 9468 9469 9514 952 9563 960 962 9663 972 9993	Homo sapiens (human)
DOID:9191	diabetic macular edema	CD14 CHI3L1 GAL3ST1 HK1 ICAM1 LGALS1 PLA2G7 RPE SLC35A1	10559 1116 3098 3383 3956 6120 7941 929 9514	Homo sapiens (human)
DOID:9743	diabetic neuropathy	ACE ACSL1 AKR1B1 ALDH2 BAD CAT ENO2 GGT1 GHRL GLO1 GPX1 MAPK14 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 SORD ST3GAL4 TKT TLR4 TNF UCP2 VCAM1	10908 142 1432 1636 2026 217 2180 231 2678 2739 2876 51738 5373 572 5728 5743 5973 6484 6609 6652 7086 7099 7124 7351 7412 847	Homo sapiens (human)
DOID:12785	diabetic polyneuropathy Aliases: Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ACE ADIPOQ ADRB3 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 INS ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PDX1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PPARGC1A PRKAA2 PRNP PTEN PTGS2 RBP4 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TLR4 TM7SF2 TNF UMOD UPP1 VCAM1	1012 10159 10327 10891 142 155 1636 207 217 231 23409 23545 2517 2571 2572 2597 2645 266722 2678 2739 2752 3099 3383 3630 3651 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5950 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7099 7108 7124 7369 7378 7412 7903 7941 847 8473 8704 929 9370 9388 972	Homo sapiens (human)
DOID:10481	diaphragm disease	CYP2C9 GAA TPI1	1559 2548 7167	Homo sapiens (human)
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MTAP	4507	Homo sapiens (human)
DOID:13250	diarrhea	ABO ACADM ACAT1 ACOT7 ACOT8 ACSF3 AGA AKR1D1 ALDOB ALG3 ALG8 APRT CD14 CD248 CD55 CEACAM5 CHGA CHPT1 CNTN3 COMT CPT1A CRYL1 CYP11B2 CYP1A2 CYP27A1 CYP2C19 CYP2C9 CYP3A4 CYP7A1 CYP7B1 DGAT1 DHDDS FBP1 FUT1 FUT2 GALT GLA GLB1 GNS GUSB H6PD HADH HGSNAT HMGCL HMGCS2 HSD3B7 IDS IL18R1 IL1RL1 KLB LCT LGALS3 LIPA LYZ MBL2 MLYCD MPI MTM1 NAGLU NCAM1 PIGT PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PRKAA2 PRNP PTGES3 PTGS2 RGN SDCBP2 SGSH SI SLC17A5 SLC26A2 SLC35A2 SLC5A1 SPTLC2 SRGN ST8SIA2 ST8SIA4 SULT1E1 TM7SF2 TPI1 TREH TYMP UGDH UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS	10005 10195 1048 10728 1113 11181 11332 1312 1374 138050 152831 1544 1557 1559 1576 1581 1585 1593 1604 175 1836 1890 197322 2203 229 23417 2523 2524 2592 26503 27111 2717 2720 2799 28 2990 3033 3155 3158 34 3423 353 38 3938 3958 3988 4069 4153 4351 4534 4669 4684 5067 51084 51604 5290 5291 5293 5294 5373 54575 54576 54577 54578 54600 54657 54658 5552 5563 5621 56994 57124 5743 6448 6476 6523 6718 6783 7108 7167 7355 7358 7364 7372 7903 79053 79947 80270 8128 8694 8809 9104 9173 929 9420 9517 9563	Homo sapiens (human)
DOID:9775	diastolic heart failure	ACE CYP27B1 LEPR	1594 1636 3953	Homo sapiens (human)
DOID:14687	diastrophic dysplasia	ACE CHST3 COL9A2 HPGDS PAPSS2 PTEN SLC26A2	1298 1636 1836 27306 5728 9060 9469	Homo sapiens (human)

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