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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 **4226 - 4250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:0110645	long QT syndrome 2 Aliases: LQT2	DIE2	853142	Saccharomyces cerevisiae S288C
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 CEACAM5 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 TP53	1048 207 23583 2530 5290 5291 5293 5294 5728 7157	Homo sapiens (human)
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	Homo sapiens (human)
DOID:2368	gangliosidosis	GLB1 HEXA HEXB OGA PNP	10724 2720 3073 3074 4860	Homo sapiens (human)
DOID:4210	clear cell meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)
DOID:576	proteinuria	Lepr Mgat5	107895 16847	Mus musculus (house mouse)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	OST3	854252	Saccharomyces cerevisiae S288C
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	fut1 fut2	100493351 447958	Xenopus tropicalis (tropical clawed frog)
DOID:12895	keratoconjunctivitis sicca Aliases: KCS	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	EMI2 HXK1 HXK2	850614 852128 852639	Saccharomyces cerevisiae S288C
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	Ald1	43183	Drosophila melanogaster (fruit fly)
DOID:13778	chancroid Aliases: Ulcus molle, skin	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:594	panic disorder Aliases: panic anxiety syndrome	ACE AKR1C1 AKR1C3 ARSI CDS1 COMT CYP2B6 CYP2C19 DGKH DLST FH GAD1 GAD2 GANC GFRA4 GLO1 GPX1 IL1R1 LDHA LDHB MANEA MBL2 MDH2 NAGLU NPL OGA OGG1 PLA2G4E PSAP SDHA SDHB SDHC SIGLEC7 SLC3A1 SRD5A1	1040 10724 123745 1312 1555 1557 160851 1636 1645 1743 2271 2571 2572 2595 27036 2739 2876 340075 3554 3939 3945 4153 4191 4669 4968 5660 6389 6390 6391 64096 6519 6715 79694 80896 8644	Homo sapiens (human)
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)
DOID:5695	childhood liposarcoma Aliases: pediatric liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
DOID:12359	endocrine exophthalmos	ACHE ALDH2 APRT CD44 CYP1A1 GAPDH HAS2 ICAM1 IL18R1 LYZ NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 SCD SELE SOAT1 SPAM1 SPHK1 ST3GAL5 ST8SIA1 VCAM1	10135 142 1543 217 2597 3037 3383 353 4069 43 5290 5291 5293 5294 5563 5743 6319 6401 6489 6646 6677 7412 8809 8869 8877 960	Homo sapiens (human)
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	b3galt6 b4galt7	100144979 548849	Xenopus tropicalis (tropical clawed frog)
DOID:0110741	type 1 diabetes mellitus 2 Aliases: IDDM2 Insulin-Dependent Diabetes Mellitus 2	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)

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