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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2776 - 2800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3	27329	Homo sapiens (human)
DOID:0050557	congenital muscular dystrophy	ACE ACHE AGK AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB COL6A1 CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 1291 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 55750 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency Aliases: BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	MMUT	4594	Homo sapiens (human)
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)
DOID:0110112	atrial heart septal defect 7 Aliases: ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MTAP	4507	Homo sapiens (human)
DOID:11042	Felty's syndrome Aliases: Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia	B3GAT1	27087	Homo sapiens (human)
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	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:13208	background diabetic retinopathy Aliases: Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy	ACE AKR1A1 CAT PLA2G7 SORD	10327 1636 6652 7941 847	Homo sapiens (human)
DOID:4463	multilocular clear cell renal cell carcinoma Aliases: cystadenocarcinoma of kidney renal cystadenocarcinoma	PTEN	5728	Homo sapiens (human)
DOID:4626	hydranencephaly	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ACAN ACHE ALDH5A1 ALDH7A1 AMACR APEX1 APOD ATP6V0A2 ATP6V1A CAT CD33 CD44 COG8 CPT2 CYP11A1 CYP19A1 DHCR24 DHDDS EPM2A FH FIG4 FUT2 GALC GAPDH GPAA1 GSK3B HSD11B1 IDH1 IDH2 IL6ST KCNJ11 MGLL NT5E OGDH OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLAUR PTEN PTGES PTGS2 ST3GAL5 SYNJ1 TMED9 TNF UGCG UGT1A1 UGT1A6 UGT1A7	11343 1376 142 1583 1588 1718 176 18 2271 23545 23600 2524 2581 2597 2932 328 3290 3417 3418 347 3572 3767 43 4907 4967 4968 501 523 5290 5291 5293 5294 5321 5329 54577 54578 54658 54732 5728 5743 7124 7357 7915 7957 79947 84342 847 8733 8867 8869 945 9536 960 9896	Homo sapiens (human)
DOID:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	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)
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	ANXA5 BST2 CD209 CLEC10A CLEC4G DAG1 DPAGT1 FOLR2 GNPTAB GP2 LGALS1 SFTPD SIGLEC1 TPI1	10462 1605 1798 2350 2813 308 30835 339390 3956 6441 6614 684 7167 79158	Homo sapiens (human)
DOID:0110749	type 1 diabetes mellitus 10 Aliases: IDDM10 Insulin-Dependent Diabetes Mellitus 10	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)
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)
DOID:3275	thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)
DOID:1064	cystinosis Aliases: cystine storage disease	AGPAT2 APRT CTNS CYP51A1 EHHADH GPX3 LGALS3 NAGLU OCRL PRKAA2 SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 353 3958 4669 4952 5563 6514 6523 8875 8876	Homo sapiens (human)
DOID:12273	anisometropia	PTEN SLC35A2	5728 7355	Homo sapiens (human)
DOID:2047	hepatitis D Aliases: delta hepatitis	B3GAT1 GAPDH SLC35A2 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2597 27087 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 6646 7355	Homo sapiens (human)

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