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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 **1101 - 1125** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	CADM3 FBLN5 ITPR3 JAG1 MPZ NEFL NRG1 PMP22 POLR3B SLC12A6	10516 182 3084 3710 4359 4747 5376 55703 57863 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:3498	pancreatic ductal adenocarcinoma Aliases: ductal adenocarcinoma of the pancreas	CALR E2F1 GOT1 TGFBR1	1869 2805 7046 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	CALR EFNB2 FLT3LG HLA-DQA1 TNFRSF17 TYMS VEGFA	1948 2323 3117 608 7298 7422 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	CALR MPL THPO VWF	4352 7066 7450 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	CALR MPL THPO	4352 7066 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR	811	Homo sapiens (human)	Alliance of Genome Resources
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	CALR	811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CANT1 XYLT1	124583 64131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	CANT1	124583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110821	hereditary spastic paraplegia 76 Aliases: SPG76 autosomal recessive spastic paraplegia 76	CAPN1	823	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	CAPN10 CYP19A1 CYP1A1 FST	10468 11132 1543 1588	Homo sapiens (human)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	CAPN3 CHKB COL6A3 DYSF FKRP FKTN LAMA2 POMGNT1 POMT1 POMT2 SGCA SGCB SGCD SYNE1	10585 1120 1293 2218 23345 29954 3908 55624 6442 6443 6444 79147 825 8291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	CARD11 CD22 CD40 CD79B FCGR2A IL21R MYD88	2212 4615 50615 84433 933 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111958	immunodeficiency 11B Aliases: IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111957	immunodeficiency 11A Aliases: CARD11 deficiency IMD11A SCID due to CARD11 deficiency severe combined immunodeficiency due to CARD11 deficiency	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080475	psoriasis 2	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111984	immunodeficiency 58 Aliases: IMD58 severe combined immunodeficiency due to CARMIL2 deficiency	CARMIL2	146206	Homo sapiens (human)	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources

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