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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 **4626 - 4650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2272	vulvovaginal candidiasis Aliases: Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis	AKR1A1 CLEC7A GLA GM2A MBL2 PSAP	10327 2717 2760 4153 5660 64581	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	SMC3	9126	Homo sapiens (human)	DisGeNET
DOID:0090038	torsion dystonia 2	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	PKLR SPTLC1	10558 5313	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5363	myxoid liposarcoma Aliases: Myxoid/round cell liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	10682 23583 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	ACACA ACE ACLY AGPAT2 AKR1C3 ALDH2 AMY1A AMY1B AMY1C CA4 CANX CD14 CPT1A CRYL1 CS CYP17A1 CYP19A1 CYP1A2 DHDDS EHHADH ELOVL6 ENPP1 FASN FCGR3B FCN2 G6PC1 G6PC2 GCK GFPT1 GLA GLB1 GPX1 H6PD HADH HGSNAT HK2 HPGDS HSD11B1 IDH3A IDH3B KL LIPC LPIN1 LPL MELTF MGAT5 MPI NEIL1 OGT PDHX PFKFB1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PMM2 PNPLA2 PNPLA3 POMGNT1 PRKAA2 PTEN PTGDS RENBP SCD SFTPA1 SFTPA2 SFTPC SIGLEC7 SIRT4 SLC2A3 SLC2A4 ST3GAL4 TM7SF2 UGDH UGT1A1 VCAM1	10555 1374 138050 1431 1544 1586 1588 1636 1962 217 2194 2215 2220 23175 23409 2538 2645 2673 27036 2717 2720 27306 276 277 278 2876 3033 3099 31 3290 3419 3420 3990 4023 4241 4249 4351 47 51084 5167 5207 5290 5291 5293 5294 5310 5373 54658 55624 5563 57104 5728 5730 57818 5973 6319 6440 6484 6515 6517 653509 7108 729238 7358 7412 762 79071 79661 79947 80339 8050 821 8473 8644 929 9365 9563	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110502	autosomal recessive nonsyndromic deafness 45 Aliases: DFNB45 autosomal recessive deafness 45	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:0110302	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3316	perivascular tumor Aliases: malignant perivascular cancer	CD44	960	Homo sapiens (human)	DisGeNET
DOID:10965	spastic diplegia Aliases: Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	CYP17A1 CYP19A1	1586 1588	Homo sapiens (human)	DisGeNET DisGeNET
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

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