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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 **1901 - 1925** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:13868	hypoactive sexual desire disorder Aliases: Lack or loss of sexual desire	CYP17A1	1586	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)
DOID:9837	hypertropia	ACO2 ACOX1 ACSL4 ADPRS AGK ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GFPT1 GK GMPPB HIBCH HSD17B4 INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2	10195 10466 10585 10908 1103 113189 1312 148789 1545 1650 1718 1727 1892 197258 2132 2182 2218 23545 2581 2619 26275 2673 2710 285203 29925 29929 29954 3295 3897 4191 440138 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 64116 6785 7355 78989 79147 7915 79944 81031 8398 84197 84992 8803 8879 9091 9126 91869 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	UGT1A1	54658	Homo sapiens (human)
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALG1 APRT ARSB ARSD ATP6V1A ATRN CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP1B1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 EPHX2 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NCAM1 NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1545 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 2053 217 2180 2194 2218 23409 23417 23583 2526 2539 2548 2597 2632 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4684 4758 4973 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9173 91949 9197 9365 9469 9896	Homo sapiens (human)
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)
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)
DOID:420	hypertrichosis	ACACA AGPAT2 ARSB COG7 CYP11B1 CYP21A2 ECHS1 FUCA1 GLB1 GNS GUSB H6PD HGSNAT HSD3B2 IDS MAN2B1 NAGLU NANS PAPSS2 PDHA1 PTGDS SDHA SGSH SMC3 SRD5A3 XYLT1	10555 138050 1584 1589 1892 2517 2720 2799 2990 31 3284 3423 411 4125 4669 5160 54187 5730 6389 64131 6448 79644 9060 9126 91949 9563	Homo sapiens (human)
DOID:2855	hyperthyroxinemia	ADH5	128	Homo sapiens (human)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NR1D1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPARGC1A PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 10891 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370 9572	Homo sapiens (human)
DOID:11561	hypertensive retinopathy	DLD DLST FH HSD11B2 MDH2 SDHA SDHB SDHC SDHD	1738 1743 2271 3291 4191 6389 6390 6391 6392	Homo sapiens (human)
DOID:11516	hypertensive heart disease	ACE CYP11B2 SLC33A1	1585 1636 9197	Homo sapiens (human)
DOID:9427	hypertensive encephalopathy	COMT PPARA	1312 5465	Homo sapiens (human)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABAT ABO ACACA ACADSB ACAT1 ACE ACO1 ACSM1 ACSM3 ACSS2 ADH1B ADRB3 AGPS AGXT AKR1A1 AKR1B1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH2 ALDH7A1 ALOX12 ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 APRT ARSA ARSB ARSD ATP1A2 ATP6AP2 ATP6V0A2 B3GAT1 BAAT BAD BST1 CACNA2D1 CALR CAT CD14 CD38 CD44 CDH13 CERS5 CHGA CHI3L1 CHPT1 CHST12 CHST3 CLC CLEC16A CNTN3 CNTN4 CNTN5 COL9A2 COMT CTSA CYB5R3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP4F8 CYP7A1 DAG1 DCN DEGS1 DLD DPAGT1 DPEP1 EBP ENO1 ENO2 ENO3 ENPP1 EPHX2 EXT2 FADS1 FASN FCN3 FIG4 G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GBA1 GCK GGT1 GLA GLCE GLO1 GML GNPDA2 GOLPH3 GPC3 GPI GPX1 GPX3 GSK3B HJV HK2 HMGCS2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 HSPG2 HTR2A ICAM1 IDH2 IDUA IL18RAP IL1R1 IL1RL1 IL6ST IMPA1 INPPL1 INS ISYNA1 KCNJ11 KCNQ1 KL LCT LDHA LEP LEPR LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPCAT3 LPIN1 LPL LSS LYZ MACROD2 MBL2 MCAT MLYCD MPI MSLN NAMPT NPL NPY1R OGA OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G15 PLA2G4A PLA2G5 PLA2G7 PLCB3 PLCD1 PLCE1 PLCG1 PLD2 PMM2 PPARA PRKAA2 PRNP PRSS8 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RBP4 REG3G RENBP RGN SACM1L SCD SDC1 SDHB SDHC SELE SELL SELP SEMA7A SFTPC SHMT1 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35F3 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SLC5A2 SMUG1 SORD SPHK1 SPHK2 SRGN ST3GAL4 ST8SIA4 STS SULF2 SULT1E1 TBXAS1 TM7SF2 TNF UCP2 UGCG UGT1A1 UMOD VCAM1 VNN1 XYLT1 XYLT2	1012 10135 10159 10162 10232 10327 10559 10682 10724 10855 1109 1113 1116 11283 116285 1178 120227 125 1298 130120 1312 132789 140733 142 148641 148738 152330 1543 1544 1545 155 1555 1557 1558 1559 1573 1576 1577 1579 1581 1583 1584 1585 1586 1588 1589 1591 1594 1605 1634 1636 1727 1738 1798 18 1800 189 2023 2026 2027 2053 207 208 2132 217 2194 22908 22933 231 23175 23274 23417 23545 23583 23600 23659 239 240 247 2538 2539 2542 2572 2590 26035 2629 2645 26503 2678 27087 2717 2719 27306 27349 2739 276 2765 277 278 28 2821 283871 284541 2876 2878 2932 308 3099 31 3158 3283 3284 3290 3291 3295 3339 3356 3383 3418 3425 353 3554 3572 36 3612 3630 3636 3767 3784 38 3938 3939 3952 3953 3956 3957 3958 3988 3990 3992 4023 4047 4051 4069 410 411 412 414 4153 4351 477 48 4886 4968 4973 501 5067 5091 51196 5130 51477 51548 5167 5209 5290 5291 5293 5294 5310 5311 5315 5321 5322 5331 5333 5335 5338 5373 53942 5465 54658 5476 55501 5552 5563 55902 55959 5621 5652 56848 56994 570 572 5728 5730 5740 5742 5743 5950 5973 60495 6296 6319 6382 6390 6391 6401 6402 6403 64083 64116 64131 64132 6440 6470 6484 6513 6514 6515 6517 6518 6519 6523 6524 6652 6783 683 6916 7108 7124 7351 7357 7369 7412 781 7903 7941 80142 80896 81031 811 847 8482 8529 8540 8547 8560 8644 8807 8876 8877 91012 9104 9173 9197 929 9365 9388 9469 9514 952 9536 960 9896	Homo sapiens (human)
DOID:6376	hypersplenism Aliases: hypersplenia	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:9809	hypersensitivity vasculitis	ABO ACE B3GAT1 B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 FCGR3B GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 2215 23646 2583 27087 27163 28 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)
DOID:1557	hypersensitivity reaction type III disease Aliases: immune complex disease	CD22 MASP2	10747 933	Homo sapiens (human)
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	GAD1 HSD3B1 HSD3B2 LPL SRD5A1 SRD5A2	2571 3283 3284 4023 6715 6716	Homo sapiens (human)
DOID:2444	hyperpituitarism	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	ALPL ANXA5 ENPP1 GALNT3 KL	249 2591 308 5167 9365	Homo sapiens (human)
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)
DOID:0070437	hyperphosphatasia with impaired intellectual development syndrome 6 Aliases: GPIBD40 HPMRS4 glycosylphosphatidylinositol biosynthesis defect 40 hyperphosphatasia with mental retardation syndrome 4	PIGY	84992	Homo sapiens (human)
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5 Aliases: GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with mental retardation syndrome 5	PIGW	284098	Homo sapiens (human)

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