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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 **11051 - 11075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:484	vascular hemostatic disease	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070388	developmental and epileptic encephalopathy 102 Aliases: DEE102 early infantile epileptic encephalopathy 102	SLC38A3	10991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	NEFL PRNP	4747 5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:3507	dermatofibrosarcoma protuberans	COL1A1 PDGFB	1277 5155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:3659	sialuria	GNE SLC17A5	10020 26503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080669	posterior polymorphous corneal dystrophy 4	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080716	infantile liver failure syndrome	NBAS RINT1	51594 60561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080159	Cryptococcal meningitis	CD274 MBL2 PDCD1	29126 4153 5133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090085	hypogonadotropic hypogonadism 9 with or without anosmia	NSMF	26012	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050737	autosomal recessive disease	NCAPG2 PPP1R13L	10848 54892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080234	Clark-Baraitser syndrome Aliases: Baraitser syndrome CLABARS autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49	TRIP12	9320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ADAR	103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110401	retinitis pigmentosa 74 Aliases: RP74	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ADIPOQ ADRA1A ADRA1B ADRA1D ADRB2 ADRB3 AKR1C3 AKT2 AMH AR ATP5F1B CAPN10 CD36 COMT CYP17A1 CYP19A1 CYP1A1 FST GPX3 HSD17B7 HSD3B1 HSD3B2 MMP2 NCOA2 NCOA4 NCOR1 NGFR NR3C1 NR3C2 PECAM1 PGR RARRES2 SERPINE1 VEGFA	10468 10499 11132 1312 146 147 148 154 1543 155 1586 1588 208 268 2878 2908 3283 3284 367 4306 4313 4804 5054 506 51478 5175 5241 5919 7422 8031 8644 9370 948 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	BMP4 CCL5 EGFR F11R IL13 IL5 PTGES TJP1 TNF	1956 3567 3596 50848 6352 652 7082 7124 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SMARCA2	6595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2 Aliases: ARCS2	VIPAS39	63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:299	adenocarcinoma	ANGPT2 APC LTA4H NOTCH1 NOTCH2 NOTCH3 PTGS2 SPHK1 STRAP TNNI3	11171 285 324 4048 4851 4853 4854 5743 7137 8877	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050853	chronic venous insufficiency	CAT PECAM1	5175 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:1679	cystitis	ADCYAP1R1 BDNF CAT CSF3 CX3CL1 IL2 IL4 KDR LTA MIF MPO MUC2 MUC5AC NGF NGFR PTGER4 PTGS2 SOD1 SOD2 TACR1 TLR5 TNF	117 1440 3558 3565 3791 4049 4282 4353 4583 4586 4803 4804 5734 5743 627 6376 6647 6648 6869 7100 7124 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070301	multiple epiphyseal dysplasia 6 Aliases: EDM6	COL9A1	1297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	ACP5	54	Homo sapiens (human)	Alliance of Genome Resources

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