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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 **4026 - 4050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	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)	DisGeNET DisGeNET
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)	Alliance of Genome Resources
DOID:150	disease of mental health	ABO ACE ACOT7 ACSL4 ACSL6 ACSS2 ALDH2 ALDH7A1 ARSA ARSD B3GAT1 CACNA2D4 CD22 CDH13 CHAT CHI3L1 CNTN4 COMT CYP21A2 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DGKK EXT1 G6PD GAD1 GAD2 GALNS GLUL GNPAT HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 MACROD2 MAG MANEA MGAT1 MICA NCAM1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PTEN PTGDS PTGS2 RGMA SDC2 SMPD1 SMUG1 SPTLC1 SRGN ST8SIA2 TMTC1	100507436 1012 10558 1103 1116 11332 123099 1312 139189 140733 152330 1555 1557 1577 1589 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 2752 28 3290 3339 3383 3417 3425 4099 410 414 4245 4684 501 51144 51477 51763 5286 5297 5305 55300 5552 55902 56963 5728 5730 5743 6383 6609 79694 8128 83857 8443 8560 933 93589 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12895	keratoconjunctivitis sicca Aliases: KCS	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6646 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2997	Sertoli-Leydig cell tumor	HSD17B1 LGALS3	3292 3958	Homo sapiens (human)	DisGeNET
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060834	Griscelli syndrome type 3 Aliases: GS3 Griscelli-Prunieras syndrome type 3	IDS	3423	Homo sapiens (human)	DisGeNET
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060001	withdrawal disorder	COMT GAD1 GAD2 HTR2A	1312 2571 2572 3356	Homo sapiens (human)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACE ANXA5 DLAT EFNA1 EOGT GUSB ICAM1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 VCAM1	1636 1737 1942 23583 285203 2990 308 3383 5130 5290 5291 5293 5294 5728 7412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	BST1 HSD11B1 TLR4 VTCN1	3290 683 7099 79679	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11120	psychologic dyspareunia Aliases: Dyspareunia, psychogenic Non-organic dyspareunia	ACE ACHE ACSS2 ALDH7A1 CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1	1012 148738 1588 1636 2026 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 6382 6646 9394	Homo sapiens (human)	DisGeNET
DOID:10041	dysplastic nevus syndrome Aliases: FAMM syndrome familial atypical multiple mole-melanoma	ACO1 ALPP AMACR CD44 COL9A2 CSPG4 CYP1B1 CYP21A2 CYP27B1 DERA FASN GAPDH GLT8D1 GOLPH3 HPRT1 HYAL2 ICAM1 IDH1 IGF2R INPP5K LGALS1 LGALS3 MELTF MRC1 MTAP PARP1 PDIA3 PIGU PIK3CA PLA2G1B PLA2G2A PTEN PTGS2 RECK SDC2 SMUG1 VCAM1	128869 1298 142 1464 1545 1589 1594 2194 23583 23600 250 2597 2923 3251 3383 3417 3482 3956 3958 4241 4360 4507 48 51071 51763 5290 5319 5320 55830 5728 5743 6383 64083 7412 8434 8692 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome Aliases: Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060771	obsolete dextro-looped transposition of the great arteries 1	CFC1 FKTN GPC3 HSPG2 PIGL	2218 2719 3339 55997 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:484	vascular hemostatic disease	ABO	28	Homo sapiens (human)	DisGeNET
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8 MAN1A1	4121 79053	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:4090	agnosia Aliases: Dyspraxia Dyspraxia syndrome	ACADSB ACAT1 ACE AGK AGRN ALDH2 ALDH5A1 ALG13 ALG14 ALG2 ARSA ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GAT1 CACNA2D2 CAT CHAT CHI3L1 CHKB CHST14 CHST3 CLN5 COG4 COG5 COMT CRPPA CYP19A1 CYP27B1 CYP2B6 CYP2C9 CYP2R1 CYP2U1 CYP3A4 CYP3A5 DAG1 DGKK DPAGT1 EPM2A EXT2 EXTL3 FASN FCGR3B FKRP FKTN GAD2 GALT GBA1 GCK GFPT1 GMDS GMPPB GPAA1 GPX1 GPX3 HACD1 HADH HADHA HADHB HGSNAT HIBCH HPRT1 INPP5K LARGE1 LGALS1 LMAN2L MAN1B1 MBOAT7 MDH2 MGLL MTMR14 MTMR2 NDST1 PGAP1 PIGC PIK3CA PLA2G6 PLCB4 PNP PNPLA2 POMGNT1 POMK POMT1 POMT2 PRNP PRPS1 PSAP PTEN PTGS2 RPIA SDHA SDHB SDHD SLC35G1 SRD5A3 ST3GAL3 ST3GAL5 TECR TUSC3 UGT2B7	10159 10466 10585 1103 1116 1120 11253 113189 11343 113612 120227 1203 1312 138050 139189 148789 1555 1559 1576 1577 1588 159371 1594 1605 1636 1798 199857 2132 2137 217 2194 2215 2218 22934 23545 2572 25839 2592 26275 2629 2645 2673 27087 2762 2876 2878 29925 29954 3030 3032 3033 3251 3340 36 375790 38 3956 410 4191 427 4860 51763 523 5279 5290 5332 55624 55750 5621 5631 5660 57104 5728 5743 6389 6390 6392 64419 6487 729920 7364 79143 79147 7915 7957 79644 79868 7991 80055 81562 8398 84197 847 85365 8733 8869 8898 9200 9215 9254 9469 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	ACACA ACE ACSL4 ACSL5 AKR1C4 ALG1 ANXA5 APRT ARSA ARSF BCKDHB BDH2 BST2 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD72 CD74 CDH13 CEPT1 CHST12 CLEC16A CLEC7A CNTN6 COG6 COMT CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP2B6 CYP2C19 CYP2E1 CYP3A5 DAG1 DGAT1 DGKQ DLAT EFNA2 EFNA5 ENO1 EPHX2 FCGR3B FCN2 FCN3 FH FUT2 GALC GCK GLO1 GPI HPGDS HPRT1 HSD11B1 HSD17B6 HSPG2 ICAM1 ICAM5 IL18R1 IL18RAP IL1R1 IL1RAP INPP5D KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LCT LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAN2A1 MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MRC1 MTMR3 NCAM1 NEU1 OGG1 PARP1 PC PDHX PGK1 PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2R1 PLB1 PLD2 PLD4 PNP PRKAA2 PRPS2 PTEN PTGDS PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC2 SELE SELL SELP SEMA7A SFTPD SGMS1 SIGLEC12 SIGLEC1 SIGLEC5 SIGLEC6 SLC2A4 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK2 ST8SIA4 TNF TNFRSF10C TPI1 UMOD VCAM1 VTCN1	100507436 1012 10390 10747 1109 122618 1312 142 151056 1543 1555 1557 1571 1577 1588 1589 1591 1605 1609 161357 1636 1737 1943 1946 2023 2053 2182 2215 2220 2271 22914 22925 23274 23583 2524 2581 259230 2645 27255 27306 2739 2821 308 31 3251 3290 3339 3383 353 3554 3556 3635 3820 3821 3824 3897 3938 3956 3958 3964 3965 4069 410 4124 4153 416 4249 4360 4684 4758 4860 4968 5091 51703 5230 5236 5281 5286 5290 5291 5293 5294 5320 5338 55501 5563 56052 5634 5648 56848 56898 5728 5730 5742 5743 57511 594 5973 6382 6383 6401 6402 6403 64116 6441 64581 6517 6609 6614 6646 684 7087 7124 7167 7369 7412 7903 79679 79966 8050 811 8434 847 8482 8547 8630 8694 8778 8794 8807 8809 8897 8930 89858 912 929 933 945 946 952 960 962 971 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110168	Charcot-Marie-Tooth disease type 2Y Aliases: CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y	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
DOID:11994	atrophy of testis	AKR1A1 ALDH2 CHST3 HMMR HPRT1	10327 217 3161 3251 9469	Homo sapiens (human)	DisGeNET
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)	DisGeNET
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources

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