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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 **2426 - 2450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5732	pyosalpinx Aliases: Pyosalpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	ACE CALR CAT	1636 811 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	ATP6AP1 ATP6V0A2 ATP6V1A 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 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:543	dystonia Aliases: dystonic disease	ACER3 ACHE ACOX1 ACSF3 ADH1C AGA ALDH5A1 ALDH6A1 ARSA ARSG ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP27A1 CYP2U1 DBT DEGS1 DHDDS DLAT DLD DPEP1 ECHS1 GAD1 GBA1 GCDH GLB1 GM2A GPI GPX1 HEXD HIBCH HPRT1 INPP5K L2HGDH LMAN2L MAN1B1 MBOAT7 MDH2 MECR MMUT MYORG NDST1 OGA PAFAH1B1 PCCA PCCB PDHA1 PDHX PGAP1 PIGC PIGP PIGQ PIK3CA PLA2G6 PSAP PTEN RENBP SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10724 11253 113612 126 1312 148789 1593 1629 1727 1737 1738 175 1800 1892 197322 22901 23583 2571 2583 26275 2629 2639 2720 2760 2821 284004 2876 3251 3340 410 4191 43 4329 4594 5048 5095 5096 51 51102 51227 5160 51763 523 5279 5290 55331 5660 5728 57462 5973 6342 6389 6392 64116 6487 7167 79143 7915 7991 79944 79947 80055 8050 81562 8398 8560 8803 8867 8869 9091 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:6214	ovarian papillary neoplasm Aliases: Ovarian papillary tumor Ovarian papillary tumour Papillary tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)	DisGeNET
DOID:0060611	abdominal obesity-metabolic syndrome	LEP NEIL1 PPARGC1A	10891 3952 79661	Homo sapiens (human)	Alliance of Genome Resources
DOID:437	myasthenia gravis	ACHE APRT B3GAT1 CD55 CDIPT CDS1 CLC CNTFR CYP21A2 CYP3A5 IL18R1 LGALS1 LGALS8 NCAM1	1040 10423 1178 1271 1577 1589 1604 27087 353 3956 3964 43 4684 8809	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ALPI ALPP ANXA4 ANXA5 APRT ARSA BRAF CALR CAT CBR1 CD14 CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CRYL1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP7A1 ENO1 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GNE GPC1 GPC3 H6PD HK2 HPSE HSPG2 ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 ME1 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PCYT1A PDHA1 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SDC2 SGMS1 SHMT2 SIRT2 SMUG1 SPHK1 SPHK2 STS UGDH UGT1A10 UGT2B11 UMPS VTCN1	10020 10232 10327 1048 10720 10855 1087 142 1543 1544 1581 1586 1588 1591 1594 1604 1636 2023 220 2203 2215 226 22914 22933 23583 240 246 248 250 2523 2524 2525 2588 259230 2678 2719 2752 2817 307 308 3099 3339 3383 3417 3418 3482 353 3897 3939 3956 3958 3965 410 412 4199 4360 4595 4680 4684 4758 4907 4968 4978 51084 5130 5160 5214 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 6383 6472 673 7358 7372 79661 79679 811 8434 847 873 8877 929 9536 9563 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)	DisGeNET
DOID:5003	eunuchism	B4GALNT1 CD44 CD55 CTNS CYP2R1 G6PC3 HS6ST1 NT5E SEMA7A STS	120227 1497 1604 2583 412 4907 8482 92579 9394 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060690	autosomal dominant auditory neuropathy 1 Aliases: AUNA1 NSDAN nonsyndromic dominant auditory neuropathy	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: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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:496	spindle cell hemangioma Aliases: SCH	ANXA5 IDH1 IDH2 PRKAA2 PTGS1 PTGS2	308 3417 3418 5563 5742 5743	Homo sapiens (human)	DisGeNET
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	PRKAA2	5563	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:688	embryonal cancer Aliases: embryo neoplasm embryonal neoplasm	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 CD44 CLEC10A CYP19A1 DHDH GFRA1 GOLPH3 GPC3 HPGDS IDH1 IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TDG TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2674 2719 27294 27306 3417 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 6996 8277 8644 9388 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14042	bipolar I disorder	CACNA2D2 FADS1 FADS2 MACROD2 NCAN PARP10	140733 1463 3992 84875 9254 9415	Homo sapiens (human)	DisGeNET
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)	DisGeNET
DOID:0111049	platelet-type bleeding disorder 17 Aliases: BDPLT17 hereditary thrombasthenia-thrombocytopenia	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3659	sialuria	CEACAM5 CHIT1 GNE HPGDS PIK3CA PIK3CB PIK3CD PIK3CG RENBP SLC17A5	10020 1048 1118 26503 27306 5290 5291 5293 5294 5973	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110471	autosomal recessive nonsyndromic deafness 16 Aliases: DFNB16 autosomal recessive deafness 16	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:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)	Alliance of Genome Resources

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