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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 **4101 - 4125** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050242	primary amebic meningoencephalitis Aliases: Naegleria fowleri infection	CYP51A1	1595	Homo sapiens (human)
DOID:10175	optic papillitis Aliases: papillitis	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:0080599	Coronavirus infectious disease	ACE CD209 MBL2 SFTPD	1636 30835 4153 6441	Homo sapiens (human)
DOID:0060229	Baraitser-Winter syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 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:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	ALPP ATRNL1 CYP24A1 PTGS2	1591 250 26033 5743	Homo sapiens (human)
DOID:0060451	Meesmann corneal dystrophy Aliases: MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy	CAT MLYCD	23417 847	Homo sapiens (human)
DOID:4723	intracranial hypotension	IDUA	3425	Homo sapiens (human)
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO ACACA ACADM ACE ACOT7 AKR1D1 ALDH2 ALDOB ALPP APRT ARSH ATRNL1 B4GALT1 BDH1 BST2 CALR CAT CD14 CD1D CD44 CD74 CEL CFC1 CHI3L1 CHPT1 CHST3 CLEC7A COLGALT2 CPT1A CPT1B CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP7A1 CYP7B1 DLAT ECHS1 ENPP2 EXT1 FADS2 FBP1 FCGR3B FUT8 G6PD GGT1 GPC3 GPI GPNMB GPX1 GUSB HADH HAS1 HAS3 HKDC1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 ICAM1 IL1R1 IPMK KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 LIPC LTC4S MBL2 MBOAT7 MGLL MICA MPPE1 NAMPT NCAM1 NCAN NT5E OGG1 PARP1 PARP2 PARP9 PC PDIA3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLD4 PMM1 PNPLA3 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 RGN SDC1 SELP SGMS1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SMPD1 SMUG1 SOAT1 SPHK1 ST6GAL1 SULF1 TIPARP UGT1A1 UGT2B7 UMOD VCAM1	10038 100507436 10135 10457 1056 10998 1116 11332 11343 122618 1374 1375 1376 142 1463 1544 1545 1555 1557 1559 1571 1576 1581 1583 1584 1586 1588 1589 1593 1636 1737 1892 2131 217 2203 2215 229 22914 22933 23127 23213 23583 250 2530 253430 2539 259230 25976 26033 26503 2678 2683 27036 27180 2719 27306 28 2821 2876 2923 2990 3033 3036 3038 31 3284 3291 3293 3383 34 347527 353 3554 3820 3821 3956 3958 3965 3990 4056 4153 4684 4907 4968 5091 51548 5168 5236 5290 5291 5293 5294 5372 54658 5563 55997 56994 5716 5728 5742 5743 622 6382 6403 64581 6480 65258 6609 6646 6718 684 7364 7369 7412 79143 80201 80339 811 83666 847 8630 8877 9104 912 929 9415 9420 9469 9536 960 972	Homo sapiens (human)
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:1699	obsolete congenital ichthyosiform erythroderma	ACE ADH5 ALDH3A1 ALDH3A2 ALOX12B AMY2B CD44 CERS3 COG7 DGAT1 EBP ELOVL4 FCER2 GBA1 HSD17B6 LPIN2 MPDU1 MRC1 NSDHL PIGA PNPLA2 PNPLA6 PRSS8 SGPL1 STS SULT2B1	10682 10908 128 1636 204219 218 2208 224 242 2629 280 412 4360 50814 5277 5652 57104 6785 6820 8630 8694 8879 91949 9526 960 9663	Homo sapiens (human)
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	ABO AGL AGPAT2 ALOX5 ANXA5 APRT ARSD ATP6AP2 CBR1 CD33 CD38 CD44 CEACAM7 CHST3 CYP2B6 EBP FH FUT1 FUT4 GFRA1 GLB1 HK3 HPRT1 HSPG2 ICAM1 IDH1 IDH2 IL18R1 KLRB1 KLRD1 LGALS12 LGALS1 LGALS3 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGDS PTGS1 PTGS2 SDHD SMPD1 SOAT1 SRGN TNFRSF10C	10159 10555 10682 1087 1555 178 2271 240 2523 2526 2674 2720 28 308 3101 3251 3339 3383 3417 3418 353 3820 3824 3956 3958 414 4684 5290 5291 5293 5294 5552 57104 5728 5730 5742 5743 6392 6609 6646 85329 873 8794 8809 945 9469 952 960	Homo sapiens (human)
DOID:5172	endometrium carcinoma in situ Aliases: carcinoma in situ of endometrium endometrial carcinoma in situ	PTEN	5728	Homo sapiens (human)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD72 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CERS6 CHI3L1 CHST9 CLEC12A CNTFR COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 EBP EFNA5 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GAPDH GGT1 GML GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST4 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1RL1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LIPA LPL LSS MBL2 MOGS MTAP NAAA NAMPT NCAM1 NT5E PARP9 PGP PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PLCG2 PNP PNPLA3 PRKAA2 PRPS1 PTEN PTGS2 SACM1L SCD SELE SFTPD SHMT1 SLC27A5 SMUG1 SOAT1 SPHK2 ST8SIA6 UGT1A1 UMOD UNG	1012 10135 1048 1056 10584 10682 10855 1087 10998 1116 1271 1464 1543 1544 1545 1555 1557 1558 1571 1576 1577 160364 1604 1946 2026 2131 2271 22908 22914 231 23583 23659 248 250 2526 253782 2539 2571 2597 2678 27087 27163 27306 2765 28 2821 283871 2876 308 3098 3161 3251 3383 338596 3417 3418 3425 353 3635 3956 3958 3988 3992 4023 4047 4051 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 5336 54658 5563 55902 5631 56848 5728 5743 60495 6319 6401 6441 6470 6646 7369 7374 7841 80339 811 83539 83666 847 8644 8809 912 9173 929 933 945 9487 952 960 962 971 9951	Homo sapiens (human)
DOID:698	dentin sensitivity Aliases: Sensitive dentin	ISYNA1 NDUFAB1	4706 51477	Homo sapiens (human)
DOID:0110576	autosomal dominant nonsyndromic deafness 50 Aliases: DFNA50 autosomal dominant deafness 50	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)
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:4163	ganglioneuroblastoma	CD44 GAPDH LGALS3 NCAM1 SIGLEC7	2597 27036 3958 4684 960	Homo sapiens (human)
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	ALPP ATRNL1 CALR CLEC1B CYP2J2 FUT1 G6PD GOLPH3 HPRT1 ICAM5 IDH2 IL18R1 LMAN1 MCFD2 PIGA PIK3CD PKLR POGLUT1 SMUG1 SOAT1 UGT1A1	1573 23583 250 2523 2539 26033 3251 3418 3998 51266 5277 5293 5313 54658 56983 64083 6646 7087 811 8809 90411	Homo sapiens (human)
DOID:3326	purpura Aliases: Purpuric disorder	CALR CAT COMT GLUL LYZ SMUG1	1312 23583 2752 4069 811 847	Homo sapiens (human)
DOID:0111146	acquired von Willebrand syndrome Aliases: AVWS	CALR	811	Homo sapiens (human)
DOID:0110949	Waardenburg syndrome type 3 Aliases: Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies	IDS	3423	Homo sapiens (human)
DOID:0050746	mantle cell lymphoma	CD74 FASN FCER2 FH FMOD FUT1 HACD1 HPGDS MRC1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC35B2 SMUG1	142 2194 2208 2271 2331 23583 2523 27306 347734 4360 4507 5290 5291 5293 5294 9200 972	Homo sapiens (human)

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