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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 **10401 - 10425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	Abcb1a Abcb1b Cd274 Fas Stat3	14102 18669 18671 20848 60533	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	Kit	16590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080686	tubular aggregate myopathy 2	Orai1	109305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Angpt1 F12 F2 F7 Hs3st6 Kng1 Kng2 Myof Plg Serping1	11600 12258 14061 14068 16644 18815 226101 328779 385643 58992	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	Cnga3	12790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111662	ectodermal dysplasia 14 Aliases: ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Tspear	252974	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Adipoq Ager Apob Ccl2 Cd40lg Cfh Cfhr4 Ddah1 Enpp1 Fgb Fto Gipr Gpx1 Gys1 Hp Hspa1a Lipg Mpo Plaur Pparg Ppargc1a Ptgs2 Tlr9 Usf1	110135 11450 11596 12628 14775 14936 15439 16891 17523 18605 18793 19016 19017 19225 193740 20296 214403 21947 22278 238055 26383 381853 69219 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	Abo Adamts13 Cast Cyp2c29 Fcgr2b Fcgr3 G6pd2 G6pdx H2-Ab1 Hp Il13 Mbl2 Tnf	12380 13095 14130 14131 14380 14381 14961 15439 16163 17195 21926 279028 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	Fzd5 Lamb1 Ptch2 Tmem67 Yap1	14367 16777 19207 22601 329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080978	arthrogryposis multiplex congenita-1	Lgi4	243914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9246	cerebral amyloid angiopathy Aliases: Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis	Aoc3 Aqp4 Itm2b Mme Olr1	108078 11754 11829 16432 17380	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	Enpp1 Notch1	18128 18605	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	Il3	16187	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	Spart	229285	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Pygl	110095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8337	appendicitis Aliases: acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess	F2	14061	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 Proc	14067 19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	Col1a1 Col1a2	12842 12843	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	Atp7a Lox	11977 16948	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	Amn Slc19a2	116914 93835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	Mcoln1	94178	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9849	Meniere's disease Aliases: Meniere disease Mnire's vertigo Otogenic vertigo	Aqp4 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hspa1a	110557 11829 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 193740	Mus musculus (house mouse)	Alliance of Genome Resources

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