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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 **12101 - 12125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	CTNNA3	29119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060864	patterned macular dystrophy 2 Aliases: MDPT2 butterfly-shaped pigmentary maculary dystrophy 2	CTNNA1	1495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080846	latent autoimmune diabetes in adults Aliases: LADA type 1.5 diabetes	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110751	type 1 diabetes mellitus 12 Aliases: IDDM12 Insulin-Dependent Diabetes Mellitus 12	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	CTLA4 TSLP	1493 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:7442	monoclonal gammopathy of uncertain significance Aliases: MGUS Monoclonal gammopathy of undetermined significance	CTLA4 MYD88 NEFH	1493 4615 4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:11168	anogenital venereal wart Aliases: Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart	CTLA4 IL10 IL12B IL21 IL2 IL4 IL6 KLRK1 MYD88 NCR1 PDCD1 PTPN11 PTPN6 SERPINF1 TGFB1 TLR2 TLR3 TLR4 TLR7 TLR8 TLR9 TNF TNFRSF18	1493 22914 3558 3565 3569 3586 3593 4615 51284 51311 5133 5176 54106 5777 5781 59067 7040 7097 7098 7099 7124 8784 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	CTLA4 HLA-DQB1 ICOS	1493 29851 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	CTLA4 HLA-DQB1 ICAM1 IL1A	1493 3119 3383 3552	Homo sapiens (human)	Alliance of Genome Resources
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CTLA4 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL4 LRP2 MBL2 TG TLR3	1493 3117 3119 3122 3123 3458 3565 4036 4153 7038 7098	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:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	CTH	1491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070051	autosomal dominant intellectual developmental disorder 21 Aliases: MRD21 autosomal dominant mental retardation 21 autosomal dominant non-syndromic intellectual disability 21	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	CTCF DDX5 KNSTRN	10664 1655 90417	Homo sapiens (human)	Alliance of Genome Resources
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111651	ectodermal dysplasia 15 Aliases: ECTD15 ectodermal dysplasia 15, hypohidrotic/hair type	CST6	1474	Homo sapiens (human)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	CSG2 DPL1 FIG4	851888 852324 855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0090120	hereditary neutrophilia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	CSF3R ELANE HAX1	10456 1441 1991	Homo sapiens (human)	Alliance of Genome Resources

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