GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **11701 - 11725** of **15957** in total

« First

‹ Prev

…

465

466

467

468

469

470

471

472

473

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110250	cataract 16 multiple types Aliases: CTRCT16	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080530	granular corneal dystrophy 1 Aliases: corneal dystrophy, Groenouw type I	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	MFSD8	256471	Homo sapiens (human)	Alliance of Genome Resources
DOID:986	alopecia areata Aliases: Circumscribed alopecia	CTLA4 DNMT1 EHMT2 HDAC1 HDAC2 HDAC7 HLA-DQA1 HLA-DQB1 IL1RN IL2 KDM1A KDM4C NOTCH4	10919 1493 1786 23028 23081 3065 3066 3117 3119 3557 3558 4855 51564	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070236	Loeys-Dietz syndrome 5 Aliases: LDS5 RNHF Reinhoff syndrome	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111669	hyaline fibromatosis syndrome Aliases: HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112271	spermatogenic failure 49 Aliases: SPGF98	CFAP58	159686	Homo sapiens (human)	Alliance of Genome Resources
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	ANXA7 CRKL MRE11 SNAI1 SRSF6	1399 310 4361 6431 6615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070441	retinal macular dystrophy 4 Aliases: MCDR4	CLEC3B	7123	Homo sapiens (human)	Alliance of Genome Resources
DOID:12030	panuveitis Aliases: Diffuse uveitis	CFH IFNG IL10	3075 3458 3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	CCR2 CYP1A1 IL13 IL17A IRAK1 LTA MMP1 MMP3 PECAM1 STAT3 STAT4 TNF	1543 3596 3605 3654 4049 4312 4314 5175 6774 6775 7124 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 TP53 VEGFD	207 2277 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111979	immunodeficiency 49 Aliases: IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities	BCL11B	64919	Homo sapiens (human)	Alliance of Genome Resources
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	CSF3 FGFR1 GATA2 IFNG IGFBP3 MN1 MPL NSD3 PDGFRA PECAM1 SNCA UGT1A1	1440 2260 2624 3458 3486 4330 4352 5156 5175 54658 54904 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	RELA TLR2 TLR4	5970 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111911	spermatogenic failure 34 Aliases: SPGF34	FSIP2	401024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	YWHAG	7532	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements