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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **11676 - 11700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ABCD3 IL2 PEX11B PEX19 PEX3 SCP2	3558 5824 5825 6342 8504 8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	F8 ITGA2 ITGA2B VWF	2157 3673 3674 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:10159	osteonecrosis Aliases: Avascular necrosis of bone aseptic necrosis bone necrosis	A2M ABCB1 ANXA2 CAT COL2A1 F2 F5 HIF1A IL23R LRP5 MIA NOS3 PLAT PLG PROC SERPINC1 TFPI VWF	1280 149233 2 2147 2153 302 3091 4041 462 4846 5243 5327 5340 5624 7035 7450 8190 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:700	mitochondrial metabolism disease	HADHB IARS2 LARS2 LETM2 MARS2 NDUFS1 SLC25A6 UQCRFS1 VARS1 WARS2 YME1L1	10352 10730 137994 23395 293 3032 4719 55699 7386 7407 92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080933	immunoglobulin light chain amyloidosis Aliases: AL amyloidosis Amyloidosis primary systemic Light chain amyloidosis Primary AL amyloidosis Primary systemic AL amyloidosis Primary systemic amyloidosis Systemic AL amyloidsis	MMP1 MMP2 MMP3	4312 4313 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:13250	diarrhea	LCT MME SLC26A3	1811 3938 4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	FMR1	2332	Homo sapiens (human)	Alliance of Genome Resources
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	EFTUD2 NOLC1 POLR1B TCOF1	6949 84172 9221 9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	CBL F11 IGFALS KAT6B KRAS PLAT PLG PTPN11 RAF1 SERPINE1 SOS1	2160 23522 3483 3845 5054 5327 5340 5781 5894 6654 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:10824	malignant hypertension	ADM	133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	SPAST	6683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	CHRNA4	1137	Homo sapiens (human)	Alliance of Genome Resources
DOID:2300	spondylolysis	SLC26A2	1836	Homo sapiens (human)	Alliance of Genome Resources
DOID:4989	pancreatitis	BDKRB2 CCL2 CCL5 CNR2 CTSL CTSV EGF EGR1 FGA FGB FGG HSP90AB1 HTR2A ICAM1 IL10 IL13 IL15 KLK1 LEPR MDM2 MET NOD2 PDGFA PDGFB PPARG PRSS1 SELL SERPINA1 SERPING1 SMO TACR1 TLR2 TLR3 TLR4 VCAM1	1269 1514 1515 1950 1958 2243 2244 2266 3326 3356 3383 3586 3596 3600 3816 3953 4193 4233 5154 5155 5265 5468 5644 624 6347 6352 6402 64127 6608 6869 7097 7098 7099 710 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110800	hereditary spastic paraplegia 48 Aliases: SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48	AP5Z1	9907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060296	congenital secretory chloride diarrhea 1 Aliases: congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1	SLC26A3	1811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3 Aliases: LQT3	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources

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