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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 **5551 - 5575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)
DOID:2024	placental choriocarcinoma Aliases: Choriocarcinoma of the Placenta	CYP19A1 STS	1588 412	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	ACAN ACE AKR1B10 ALOX12 ALOX12B B3GAT1 CALR CAT CD14 CD1D CD44 CHI3L1 CNTN2 CYP1A1 CYP24A1 CYP2B6 DCN DHCR24 EBP ENPP2 FH GALNTL5 GBA1 HK2 HSD11B1 IL1R1 INPP5A KDSR KL LGALS3 LYZ MCAT MINPP1 MMUT MOGS MRC1 MSMO1 NDUFAB1 NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS1 PTGS2 SCD SDC1 SDC4 SDHD SIRT6 SOAT1 SPHK2 STS VCAM1	10682 1116 1543 1555 1591 1634 1636 168391 1718 176 2271 23509 239 242 2531 2629 27087 27349 3099 3290 3554 3632 3958 4069 412 4360 4594 4706 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 5538 5652 56848 57016 5728 5742 5743 6307 6319 6382 6385 6392 6646 6900 7412 7841 811 847 912 929 9365 9562 960	Homo sapiens (human)
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	ADH1A AKR1A1 ANXA5 APRT CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B GPI LCT LYZ MBL2 NT5E PC PIK3CA PLA2G2A PLA2G6 PTGS1 SELE SLC17A5 VCAM1	10327 124 1544 1555 1737 2215 26503 2821 308 353 3938 4069 4153 4907 5091 5290 5320 5742 6401 64581 7412 8398 912	Homo sapiens (human)
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)
DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1 Aliases: LGMD1D autosomal dominant limb-girdle muscular dystrophy type 1E muscular dystrophy limb-girdle type 1D muscular dystrophy limb-girdle type 1E	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)
DOID:0060719	autosomal recessive congenital ichthyosis 10 Aliases: ARCI10	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	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:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:4491	persian gulf syndrome Aliases: Gulf war syndrome	ACHE	43	Homo sapiens (human)
DOID:96	staphyloenterotoxemia Aliases: Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis	SFTPA1	653509	Homo sapiens (human)
DOID:1428	endocrine pancreas disease	GCK PDHX	2645 8050	Homo sapiens (human)
DOID:11396	pulmonary edema	ACE ALOX5 CAT CYP11B2 SFTPA1 SGMS1 TNF	1585 1636 240 259230 653509 7124 847	Homo sapiens (human)
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1 FOLR2	2348 2350	Homo sapiens (human)
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	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:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	ALDH1A3 COMT DHCR7 GAS1 PTDSS1 SMC3	1312 1717 220 2619 9126 9791	Homo sapiens (human)
DOID:4336	tinea favosa Aliases: favus	CLEC6A CLEC7A	64581 93978	Homo sapiens (human)
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ACADM ACSM3 AGPAT2 ALDH7A1 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST14 CHST3 CNTN5 CNTN6 COG6 COG8 COMT CPT2 CRPPA DAG1 DHCR24 DHCR7 EBP EOGT EXT1 FBP1 FIG4 FKRP FKTN GALC GBA1 GLB1 GLDC GLUL GMPPB GPC3 GUSB HIBCH HSD17B4 IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 MYORG NANS NGLY1 NT5E NTNG1 OCRL OGDH PAFAH1B1 PDHA1 PIGN PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PPARA PRNP PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SLC39A8 SMC3 SUCLA2 SUMF1 TGDS TMTC3 UGCG	10329 10555 10585 10682 11041 113189 1312 1376 145173 148789 160418 1605 1717 1718 2131 2203 2218 22854 23483 23556 2581 26229 26275 2629 26503 2719 2720 27255 2731 2752 285203 285362 2990 29925 29954 3295 34 3423 3425 3897 411 4534 4907 4952 4967 501 5048 5160 5290 5291 5293 5294 53942 54187 5465 55624 55768 5621 56623 5728 57462 57511 6296 64116 6440 6441 653509 729238 729920 7357 79143 79147 84197 84342 84892 8803 9126 9215 9469 9791 9896	Homo sapiens (human)
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ACSS2 AGRN ALDOA ALOX5 AMY1A AMY1B AMY1C ANXA5 ARSA ATP6AP2 B3GAT1 CEACAM5 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP1A2 CYP2J2 ENOSF1 GAD1 GHRL GNE GNPTAB GPD1 ICAM1 IDS IDUA IL18R1 KL LEP LEPR LGALS3 NANS NGLY1 NT5E PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G7 PLCB1 PLCB4 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCD SFTPC SLC17A5 SLC2A4 SLC33A1 SLC35A2 TM7SF2 TNF VCAM1	10020 10159 1048 1103 1116 1118 1312 1464 1544 1573 1636 226 23236 23659 240 2571 26503 27087 276 277 278 2819 308 3383 3423 3425 375790 3952 3953 3958 410 4907 51738 5290 5291 5293 5294 5332 54187 55556 5563 55768 55902 5728 5730 5742 5743 6319 6440 6517 7108 7124 7355 7412 79158 7941 8809 9197 9365	Homo sapiens (human)
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	ARSA CD33 CNTN2 FCER2 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG POGLUT1 PTEN SOAT1	2208 3418 410 5290 5291 5293 5294 56983 5728 6646 6900 945	Homo sapiens (human)

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