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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 **1376 - 1400** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:11244	neonatal anemia Aliases: anaemia neonatal anemia neonatal neonatal anaemia	ABO GPI OCRL	28 2821 4952	Homo sapiens (human)
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALG13 EPM2A HPRT1 IL1RAPL1 STS	11141 2181 2182 3251 412 7957 79868	Homo sapiens (human)
DOID:0050696	fetal alcohol spectrum disorder	HSD11B2 PTEN	3291 5728	Homo sapiens (human)
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	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:4189	mutism	TMTC2	160335	Homo sapiens (human)
DOID:0060046	aphasia	CPM L1CAM PRNP	1368 3897 5621	Homo sapiens (human)
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:1283	enterocele Aliases: vaginal enterocele	ACAN ACE AGA ARSA CD38 CD44 CHST3 FUCA1 GALNS GNPTAB GPC6 HGSNAT NEU1 PIK3CA PKM PTGDS SMUG1 SRGN SUCLA2 TMTC3	10082 138050 160418 1636 175 176 23583 2517 2588 410 4758 5290 5315 5552 5730 79158 8803 9469 952 960	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:0060584	Noonan syndrome 6 Aliases: NS6	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0060581	Noonan syndrome 3 Aliases: NS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:401	multidrug-resistant tuberculosis	HACD1 NCAM1 PTGS2 RENBP SMUG1	23583 4684 5743 5973 9200	Homo sapiens (human)
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:13200	substernal goiter Aliases: Retrosternal thyroid goiter Retrosternal thyroid goitre substernal goitre	ALPI ALPP CEACAM5 CYP1A1 GFRA1 HSD11B2 LGALS3 NCAM1 PTEN PTGS2 QPRT SMUG1	1048 1543 23475 23583 248 250 2674 3291 3958 4684 5728 5743	Homo sapiens (human)
DOID:0080365	endometrial hyperplasia	AKR1C1 AKR1C3 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 HSD17B7 MRC1 PIK3CA PKM PNPLA2 PTEN PTGS2 STS SULT1E1 TFF1	1312 1543 1583 1586 1588 1645 412 4360 51478 5290 5315 57104 5728 5743 6783 7031 8644 9469	Homo sapiens (human)
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)
DOID:8442	paralytic ileus	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	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:0060357	chylomicron retention disease Aliases: Anderson disease CMRD	AGA AMT ARSA ARSB ASAH1 CHIT1 CTSA CYP27A1 DGAT1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GPIHBP1 GUSB ICAM1 IDS IDUA LCAT LGALS3 LPL LSS MANBA MGAM NAGA NAGPA NT5E OGA PNPLA2 PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 UGCG UGT1A1 UMOD VCAM1	10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 275 2990 3383 338328 3423 3425 3931 3958 4023 4047 410 411 4126 427 4668 4907 51172 54658 5476 57104 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 84572 8694 8972 9415	Homo sapiens (human)
DOID:461	muscle benign neoplasm Aliases: Myomatous neoplasm Myomatous tumor muscle neoplasm muscle tissue neoplasm neoplasm of muscle	CDH13 FH	1012 2271	Homo sapiens (human)

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