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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 **7276 - 7300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	alg1	334161	Danio rerio (zebrafish)
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	CG7766 Plod kdn	31579 31839 39265	Drosophila melanogaster (fruit fly)
DOID:3213	demyelinating disease Aliases: demyelinating disorder	ARSA CD1D FIG4 GALC GPC5 HPRT1 ICAM1 KL LGALS3 MAG PTGS2	2262 2581 3251 3383 3958 4099 410 5743 912 9365 9896	Homo sapiens (human)
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:3901	vulvitis	ABO CTNS GALNS GLA LYZ MBL2	1497 2588 2717 28 4069 4153	Homo sapiens (human)
DOID:3847	papillary craniopharyngioma Aliases: Papillary Rathke's Pouch tumor craniopharyngioma, papillary	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	ATRN	8455	Homo sapiens (human)
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ARSA ARSI BAAT CD44 CEACAM5 CEACAM7 COMT CYP17A1 CYP1A1 CYP1B1 IGF2R MRC1 MUTYH NDUFAB1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	1048 1087 1312 142 1543 1545 1586 340075 3482 410 4360 4595 4706 5290 5291 5293 5294 570 5728 5743 960	Homo sapiens (human)
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	ALDH3A2 CAT CD44 DCN ENPP2 FOLR2 GLB1 ICAM1 KL LGALS3 OXCT1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTGS2 SELE XYLT2	1634 224 2350 2720 3383 3958 5019 5168 5236 5290 5291 5293 5294 5329 5743 6401 64132 847 9365 960	Homo sapiens (human)
DOID:4988	alcoholic pancreatitis	Ugt1a10 Ugt1a7c Ugt1a8 Ugt1a9	394430 394432 394434 613123	Mus musculus (house mouse)
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	Akt1	24185	Rattus norvegicus (Norway rat)
DOID:11823	hepatorenal syndrome	Tlr4 Tnf	21898 21926	Mus musculus (house mouse)
DOID:1686	glaucoma	Bad Tnf	12015 21926	Mus musculus (house mouse)
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	ACE ACSM3 ATP6V0A2 CBR1 CD14 CYP2C19 GBA1 HSPG2 LGALS9 NTM PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PTEN PTGES PTGS2 SELE SLC35F3 TM7SF2 TNF VCAM1 VCAN	142 1462 148641 1557 1636 23545 2629 3339 3965 50863 5130 5290 5291 5293 5294 5310 5311 5728 5743 6296 6401 7108 7124 7412 873 929 9536	Homo sapiens (human)
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	rt	39297	Drosophila melanogaster (fruit fly)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1 SCD	3784 6319	Homo sapiens (human)
DOID:0050453	lissencephaly	ALPP ATP6V0A2 ATP6V1A ATRNL1 B3GALNT2 B4GAT1 CD33 CD38 COMT CRPPA CYP2B6 DAG1 DHCR24 DLD DLST FCN2 FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL OCRL PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 SLC17A5 STS TMTC3	10329 10585 11041 1312 148789 1555 160418 1605 1718 1738 1743 2218 2220 23236 23545 23556 250 26033 26503 29954 3339 412 4952 5048 50814 51196 51227 523 5277 5335 55624 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CD38 GNPTAB	79158 952	Homo sapiens (human)
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	st3gal3	402789	Xenopus tropicalis (tropical clawed frog)
DOID:0080073	spina bifida occulta	B3GLCT COLEC10 COLEC11 LFNG MASP1	10584 145173 3955 5648 78989	Homo sapiens (human)
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)

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