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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:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR FUT2 GPX3	2524 2878 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060263	porencephaly	COLGALT1	79709	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	ATP6AP1 ATP6V0A2 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 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14402	critical illness polyneuropathy	ACE AGRN ARSA B3GAT1 CAT CD55 CHAT COMT CYP7B1 DEGS1 FUCA1 GPX1 HADHB MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1103 1312 1604 1636 22934 2517 27087 2876 3032 375790 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SELE SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 4907 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6401 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKB PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5257 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)	DisGeNET
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)	DisGeNET
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P Aliases: CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P	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:11400	pyelonephritis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TLR1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7096 7108 729238 7369 847 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4271	microsporidiosis Aliases: Infection by Microspora Infection by Microsporea Infection by Microsporida	TPI1	7167	Homo sapiens (human)	DisGeNET
DOID:0060496	respiratory allergy Aliases: airway allergy	MBL2 TLR4	4153 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:3530	chronic wasting disease	PRNP	5621	Homo sapiens (human)	DisGeNET
DOID:0112233	lissencephaly 8 Aliases: LIS8	TMTC3	160418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1229	paranoid schizophrenia Aliases: Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state	ABO AKR1C4 ALDH3B1 CALR COMT CYP1A2 CYP2B6 DGCR2 HSD3B2 IMPA1 MANEA PLA2G6 SIGLEC7	1109 1312 1544 1555 221 27036 28 3284 3612 79694 811 8398 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	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 DisGeNET Alliance of Genome Resources
DOID:0040085	bacterial sepsis	AACS ABO ACAT1 ACE ACHE ACOD1 ACOT8 ACSL1 ACSL4 ACSM3 ACSS2 ALDH2 ALOX12 ALOX12B APRT ARSA ATP6V0A2 BAAT BCKDHA CALR CAT CD14 CD177 CD22 CD38 CD44 CD74 CHI3L1 CHIT1 CLEC1B CLEC7A COLEC11 CS CYP1A1 CYP1A2 CYP2C8 CYP2E1 CYP2J2 CYP4F3 DHCR24 DLD ENO2 EXTL3 FASN FCGR3B FCN2 FUT4 G6PC3 G6PD GALNS GALT GAPDH GLUL GPX3 HPRT1 HSD11B2 ICAM1 IL1RL1 ISYNA1 KL KLRC1 LGALS1 LGALS3 LIPC MASP1 MASP2 MBL2 MGLL MMUT MRC1 NAAA NAMPT PARP1 PC PFKFB3 PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD1 PNPLA2 PRKAA2 PSAP PSMD10 PTEN PTGS2 PYGM SARM1 SDC1 SELL SELP SFTPA1 SFTPA2 SFTPD SGMS2 SIRT2 SIRT6 SLC2A4 SLC39A8 SLC5A1 SMPD1 SOAT1 SPHK1 SPTLC3 STS SULF1 SULT1E1 SULT2B1 TM7SF2 TMED3 UGT1A1 VCAM1	10005 10135 10747 1116 1118 11343 142 1431 151056 1543 1544 1558 1571 1573 1636 166929 1718 1738 2026 2137 217 2180 2182 2194 2215 2220 22933 23098 23213 23423 23545 23659 239 242 2526 2539 2588 2592 2597 27163 2752 28 2878 3251 3291 3383 353 38 3821 3956 3958 3990 4051 410 412 4153 43 4360 4594 5091 51266 51477 51548 5209 5238 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5335 5337 54658 55304 5563 55902 5648 5660 570 57104 57126 5716 5728 5743 5837 593 6296 6382 6402 6403 64116 6441 64581 6517 6523 653509 65985 6609 6646 6783 6820 7108 729238 730249 7412 78989 7941 811 8399 847 8877 9173 92579 929 933 9365 952 960 972	Homo sapiens (human)	DisGeNET
DOID:0110016	Leber congenital amaurosis 2 Aliases: LCA2 amaurosis congenita of Leber II	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:0070004	myeloid neoplasm	GPX1	2876	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	ABO ACACA ACE ALOX12 ATRN CAT CD248 CD44 CYP24A1 CYP27A1 CYP27B1 CYP2B6 FUT1 GGT1 GPC3 HPGDS HSD11B1 HSD11B2 ICAM1 INPP5A INPP5K ISYNA1 KDSR LGALS3 LGALS9 LTA4H MICA MRC1 MTAP NCAM1 NTHL1 OCRL OGG1 PARP1 PEMT PIGU PIK3CA PIK3CD PIK3CG PKM PTEN PTGES PTGS2 SDC1 SDHB SIRT2 SIRT6 SORD STT3A SULF2 TALDO1 TDG TNKS2 VCAM1 VCAN XYLT2	100507436 10400 128869 142 1462 1555 1591 1593 1594 1636 22933 239 2523 2531 2678 2719 27306 28 31 3290 3291 3383 3632 3703 3958 3965 4048 4360 4507 4684 4913 4952 4968 51477 51548 51763 5290 5293 5294 5315 55959 57124 5728 5743 6382 6390 64132 6652 6888 6996 7412 80351 8455 847 9536 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3GAT3 B4GALT7 CHST3	11285 26229 9469	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:10607	tropical sprue Aliases: Sprue - tropical Tropical steatorrhea	ACE AGA AKR1D1 CD55 CYP27A1 DGAT1 ENPP1 HSD3B7 LCT LPIN2 MGLL MMUT MPI OCRL PIK3CA PNLIP SI SLC2A2 SLC2A5 SLC5A1 TYMP	11343 1593 1604 1636 175 1890 3938 4351 4594 4952 5167 5290 5406 6476 6514 6518 6523 6718 80270 8694 9663	Homo sapiens (human)	DisGeNET
DOID:3357	extraosseous osteosarcoma Aliases: extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma	SMUG1	23583	Homo sapiens (human)	DisGeNET

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