GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7126 - 7150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	BAX FADD FAS LEP LPL	355 3952 4023 581 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:1936	atherosclerosis	ADD1 ADIPOQ AGER AGT APOA1 APOE CASR CD36 CD40 CD40LG CLU COL4A2 CPE CSF1 F2 FAS FCGR2A GPX3 GRN HMGB1 HNRNPC HP HPR HSPA1A ITGAM LDLR LPA MMP1 MMP2 NGF NGFR NONO NOS3 NPPB NR1H3 PARP15 PDGFD PECAM1 PLA2G7 PLAU PLTP PON1 PON3 PTGES3 PTGIS RBP4 SELP SIRT1 STAT3 STAU1 UBR1 VIM WIZ	10062 10728 118 1191 1284 1363 1435 165631 177 183 197131 2147 2212 23411 2878 2896 3146 3183 3240 3250 3303 335 348 355 3684 3949 4018 4312 4313 4803 4804 4841 4846 4879 5175 5328 5360 5444 5446 5740 58525 5950 6403 6774 6780 7431 7941 80310 846 9370 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	DEAF1	10522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112329	pontocerebellar hypoplasia type 2F Aliases: PCH2F	TSEN15	116461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 BCHE GC GRN HLA-DQB1 HLA-DRB1 IGFBP3 IL4R MMP9 SHH	140766 2638 2896 3119 3123 3486 3566 4318 590 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	ACTB REN	5972 60	Homo sapiens (human)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	ADGRB1 AKT3 CXCR4 E2F1 HRG JAK1 MAP2K1 MAPK9 NFKB1 PLAT RAC1 RAF1 VEGFC	10000 1869 3273 3716 4790 5327 5601 5604 575 5879 5894 7424 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:11162	respiratory failure Aliases: acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure	IL15 MBL2 NUP188 SFTPB	23511 3600 4153 6439	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070164	spermatogenic failure 2 Aliases: SPGF2	MSH4	4438	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	CXCR4 DLL4 NOTCH4	4855 54567 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080977	aortic valve disease 3	ROBO4	54538	Homo sapiens (human)	Alliance of Genome Resources
DOID:10456	tonsillitis Aliases: Throat infection - tonsillitis chronic tonsillitis	IGFBP3	3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	BIN1	274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	CLN5	1203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	WNT1	7471	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN1 HCN4 SCN5A	10021 183 287 348980 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ARX ATP6AP2 CASK DDX3X HUWE1 NKAP PHF2 PHF8 ZFX	10075 10159 1654 170302 23133 5253 7543 79576 8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ADAMTS13 ELANE F13A1 F2 F3 FGA GP6 IL10 IL6 PLAT PROC SERPINC1 SERPINE1 TFPI THBD TNF	11093 1991 2147 2152 2162 2243 3569 3586 462 5054 51206 5327 5624 7035 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080962	anauxetic dysplasia 2	POP1	10940	Homo sapiens (human)	Alliance of Genome Resources

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