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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 **701 - 725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	394623	Xenopus tropicalis (tropical clawed frog)
DOID:28	endocrine system disease	B4GALT1 GAD1 PDIA3	2571 2683 2923	Homo sapiens (human)
DOID:0050474	Netherton syndrome	Gba1	14466	Mus musculus (house mouse)
DOID:3021	acute kidney failure	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0050581	brachydactyly	MGAM MGAT3 PARP1 SI SLC26A2	142 1836 4248 6476 8972	Homo sapiens (human)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	dhtkd1.L	403360	Xenopus laevis (African clawed frog)
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)
DOID:10138	xerophthalmia Aliases: Conjunctival xerosis	ACAT1 ACE CHIA CNTN3 ELOVL1 ELOVL4 HPGDS ICAM1 LCAT LGALS3 MPI PTGDS PTGS2 RGN SFTPD SOAT1	1636 27159 27306 3383 38 3931 3958 4351 5067 5730 5743 6441 64834 6646 6785 9104	Homo sapiens (human)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	24070	Mus musculus (house mouse)
DOID:12309	urticaria pigmentosa Aliases: UP/MPCM	CD44 CD72 DHCR24 DLD ENOSF1 ENPP3 GPX1 HSPG2 ICAM1 IDH2 MCAT	1718 1738 27349 2876 3339 3383 3418 5169 55556 960 971	Homo sapiens (human)
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	ABO ALDH7A1 CD38 GPNMB PTGDS	10457 28 501 5730 952	Homo sapiens (human)
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	Abo G6pd2 G6pdx Tnf	14380 14381 21926 80908	Mus musculus (house mouse)
DOID:0050133	superficial mycosis Aliases: Steroid-modified tinea infection piedra	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC6A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929 93978	Homo sapiens (human)
DOID:0090046	dystonia 21	ALDH5A1	7915	Homo sapiens (human)
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	ATRN HADHA PNPLA2	3030 57104 8455	Homo sapiens (human)
DOID:12306	vitiligo	Comt Tlr4 Tnf	24267 24835 29260	Rattus norvegicus (Norway rat)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	fkrp	100145309	Xenopus tropicalis (tropical clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	Tmtc4	70551	Mus musculus (house mouse)
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	ACAA1 ACE ACHE AKR1B1 ALDH2 ALOX5 ANXA5 ARSA ARSB CD14 CDH13 CHI3L1 CYP11B2 CYP27A1 ENPP1 GLO1 HPGDS HPSE HSPG2 ICAM1 KL LCAT LGALS3 LIPC MBL2 NAMPT PLA2G1B PLA2G2A PLA2G6 PLA2G7 PNP PNPLA3 PTGDS PTGES PTGS2 SELE SELP TLR4 UCP2 VCAM1	1012 10135 10855 1116 1585 1593 1636 217 231 240 27306 2739 30 308 3339 3383 3931 3958 3990 410 411 4153 43 4860 5167 5319 5320 5730 5743 6401 6403 7099 7351 7412 7941 80339 8398 929 9365 9536	Homo sapiens (human)
DOID:11875	denture stomatitis Aliases: Denture sore mouth	CAT FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP UGT1A1 UNG	100507436 142 2215 5290 5291 5293 5294 54658 5538 5660 7374 847	Homo sapiens (human)
DOID:0080941	acquired angioedema	XPNPEP2	7512	Homo sapiens (human)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2.L	444520	Xenopus laevis (African clawed frog)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)

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