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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1026 - 1050** of **4115** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0080301	atypical hemolytic-uremic syndrome	C3 CD46 CFB CFH CFHR1 CFHR3 CFI THBD	10878 3075 3078 3426 4179 629 7056 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	AVPR1B BAIAP2 BCL11A CADM2 CNTNAP2 COMT CYFIP1 DYRK1A FOXP2 ITGA4 MAOA MBD5 MBD6 MMP9	10458 114785 1312 1859 23191 253559 26047 3676 4128 4318 53335 553 55777 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	C4B CNTNAP2 EIF4E EN2 FOXP2 GABRA2 GABRA4 GABRB1 GABRB2 GABRR2 GLO1 GRM8 HLA-DRB1 HRAS HSPD1 KCNQ3 KDM4C KMT2E LAMB1 MECP2 MET MTR NF1 NLGN1 NLGN3 NLGN4X NTRK2 PIK3CG PTCHD1 RELN SETDB1 SHANK2 SLC25A12 SLC6A4 SLC9A9	139411 1977 2020 22871 22941 23081 2555 2557 2560 2561 2570 26047 2739 285195 2918 3123 3265 3329 3786 3912 4204 4233 4548 4763 4915 5294 54413 55904 5649 57502 6532 721 8604 93986 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	HLA-DQA1 HLA-DQB1 HLA-DRB1 IDH1 NOD2 PARP1 SIAE	142 3117 3119 3123 3417 54414 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	ATP4B	496	Homo sapiens (human)	Alliance of Genome Resources
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	CTLA4 F2 HLA-DPB1 HLA-DQB1 HLA-DRB1 HRAS IL4 KIR2DL2 PDCD1 PDIA3 STAT4	1493 2147 2923 3115 3119 3123 3265 3565 3803 5133 6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081242	autoimmune interstitial lung, joint, and kidney disease Aliases: Autoimmune interstitial lung disease-arthritis syndrome COPA syndrome	COPA	1314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	KRAS NRAS	3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040091	autoimmune pancreatitis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050168	autoimmune polyendocrine syndrome type 2 Aliases: Schmidt syndrome	HLA-DQA1 HLA-DQB1 HLA-DRB1	3117 3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	HLA-DQA1 HLA-DQB1 HLA-DRB1	3117 3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	CD40LG CD86 FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 IL10 IL1A IL1RN IL2 IL4 ITGB3	2212 2213 2214 3119 3123 3552 3557 3558 3565 3586 3690 942 959	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 LRP2 MBL2 TG	1493 3117 3119 3122 3123 4036 4153 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome Aliases: APLAID autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation	PLCG2	5336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	COL4A3 MYH9	1285 4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	SYNE2	23224	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7 Aliases: EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	WNT5A	7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	DVL1	1855	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	DVL3	1857	Homo sapiens (human)	Alliance of Genome Resources

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