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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 **1426 - 1450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	Ccl2 Dab2ip F13a1 F2 F5 Fga Fgb Fgg Fto Hp Mmp2 Mmp9 Nos3 Proc Vcam1	110135 14061 14067 14161 15439 17390 17395 18127 19123 20296 22329 26383 69601 74145 99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	Fga Fgb Fgg	110135 14161 99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	Manba	110173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	Triobp	110253	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	Abcb1a Abcb1b Abcc2 Abcg2 Abl1 Ace Akt1 Bcr Cd36 Cd40 Crkl Cyp1a1 Dnmt1 Ezh2 Fas Fasl Fcgr2b Fcgr3 H2-Aa H2-Ab1 Il10 Il1rn Ncstn Pecam1 Smad4 Stat5a Tgfb1 Usp15 Vegfa	110279 11350 11421 11651 12491 12780 12929 13076 13433 14056 14102 14103 14130 14131 14479 14960 14961 16153 16181 17128 18613 18669 18671 20850 21803 21939 22339 26357 59287	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1240	leukemia	Abo Ace Bcr Cd28 Dot1l Gpx1 Kras Pdgfra Ptpn11 Ptpn6 Tfpi Trp53	110279 11421 12487 14775 15170 16653 18595 19247 208266 21788 22059 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Abcb1a Abcb1b Abcc2 Abcg2 Abo Bax Bcr Cast Cd46 Cd79b Cd86 Cfb Csf3 Cspg4 Cyp1a1 Eng Ephx1 Ezh2 F3 Fas Fga Flt3 Gnb1 Gpi1 Gpx1 Gsr H2-Aa H2-Ab1 Hdac1 Hdac4 Hfe Hk1 Ifng Il10 Kdm3b Kdm6a Kras Myc Nos3 Notch3 Nup214 Pon1	110279 12028 121021 12380 12524 12780 12985 13076 13805 13849 14056 14066 14102 14161 14255 14688 14751 14775 14782 14960 14961 14962 15216 15275 15978 15985 16153 16653 17221 17869 18127 18131 18669 18671 18979 208727 22289 227720 26357 277250 433759 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	CHAT CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG MYO9A SYT1 SYT2	1103 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 127833 4649 6857 8973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	Akt1 Areg Bax Car9 Casp9 Cd44 Cd82 Cd9 Cdh13 Cdh1 Col6a3 Comt Ctnnb1 Ctsb Cxcr2 Cyp1a1 Cyp2c29 Dapk1 Dnmt1 Egfr Eno2 Ephx1 Erbb2 Erbb3 Erbb4 Esr2 Ezh2 F2 Fanca Fas Fasl Fgfr2 Fn1 Hk1 Hspa1a Icam1 Ifng Igfbp3 Il1rn Il2 Jup Kdr Kit Kras Krt5 Map2k4 Mki67 Mlh1 Mmp13 Mmp1a Mmp2 Mmp9 Msh6 Muc1 Muc5b Myc Ncstn Nos3 Phb1 Pparg Ptgs2 Rassf1 Rela Slc11a1 Smad4 Sod2 Sparc Spp1 Tgfbr1 Thbs1 Timp3 Tlr2 Tmeff2 Tnfrsf10b Top2a Trp53 Tymp Vegfa Vegfc Vegfd Wif1 Wnt7b	110308 11651 11839 12028 12371 12387 12505 12521 12527 12550 12554 12765 12835 12846 13030 13076 13095 13433 13649 13807 13849 13866 13867 13869 13983 14056 14061 14087 14102 14103 14183 14205 14268 15275 15894 15978 16009 16181 16183 16480 16542 16590 16653 17128 17345 17350 17386 17390 17395 17688 17829 17869 18127 18173 18673 19016 19225 193740 19697 20656 20692 20750 21812 21825 21859 21933 21973 22059 22339 22341 22422 230099 24088 24117 26398 56289 56363 59287 69635 72962 74180 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Cd151 Dst Krt5 Mmp9 Plec	110308 12476 13518 17395 18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Krt5 Pofut1 Poglut1	110308 140484 224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	Krt5	110308	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	Ace2 Ace Adam8 Adam9 Anxa5 Calr Cckar Cckbr Cd40 Dnmt1 Egf Fasl Fscn1 Hdac1 Igf1r Il4 Il4ra Ins1 Ins2 Krt7 L1cam Met Mmp2 Mmp9 Msln Muc1 Muc4 Muc5ac Muc5b Ntrk3 Palld Pparg Rxra Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Smad4 Smo Tgfb1 Tgfbr2 Thbs1 Tmprss3 Tymp	110310 11421 11501 11502 11747 12317 12425 12426 13433 13645 140474 140765 14086 14103 16001 16189 16190 16333 16334 16728 17128 17295 17390 17395 17829 17833 18213 19016 20181 20700 20701 20702 20703 20704 21803 21813 21825 21939 319757 433759 56047 70008 72333 72962 74180	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	Atp7a Cox6b1 Tymp Vars1	110323 11977 22321 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070494	mitochondrial complex IV deficiency nuclear type 7 Aliases: MC4DN7	Cox6b1	110323	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 ADRA2A APOA1 AZGP1 CCL2 CCL5 CD68 CLDN1 COL1A1 CPT1A CYP27A1 CYP7A1 GPBAR1 HSPA5 HTR2B ICAM1 IL10 IL6 IRF5 KRT18 LEPR MC4R MLXIPL NFE2L2 NFKB1 NOX4 PCK1 PDGFRB RIPK3 SCD SERPINF1 SMAD4 SOD1 SOD2 SPHK2 SREBF1 TIMP1 TNF	11035 1277 1374 150 151306 1581 1593 31 3309 335 3357 3383 3569 3586 3663 3875 3953 4089 4160 4780 4790 50507 5105 51085 5159 5176 55331 563 56848 6319 6347 6352 6647 6648 6720 7076 7124 9076 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10b Dync2h1 Lrp5 Mto1 Ush2a Wfs1	110350 16973 22283 22393 380959 68291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050592	asphyxiating thoracic dystrophy Aliases: Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy	4933427D14Rik Dync2h1	110350 74477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	Dync2h1	110350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	Actn4 Agtr1a Agtr2 Angpt2 Casp9 Cd2ap Hspb1 Lipc Lpl Mmp2 Mmp9 Myo9a Ppp3ca Rap1gap Shh Srgap1 Trpc6 Vldlr Vwf	110351 11601 11607 11609 117600 12371 12488 15450 15507 16956 17390 17395 19055 20423 22068 22359 22371 270163 60595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8b	110382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080909	castration-resistant prostate carcinoma	AKR1C3 CCNE2 CHD1 NUF2 STAT5A	1105 6776 83540 8644 9134	Homo sapiens (human)	Alliance of Genome Resources

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