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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 **726 - 750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	ATP5F1A AVP BDNF CDK5 CREB1 EIF4E EPO FGFR1 FLT1 GPX1 GRIN1 GRIN2A GRIN2B GSK3B HSPA1A IGF1R LPA MAPT MMP2 MTOR NEFL NOX1 PON2 RPGRIP1L RPS6 SNCA SNCG SREBF2 TNF TP53	1020 1385 1977 2056 2260 2321 23322 2475 27035 2876 2902 2903 2904 2932 3303 3480 4018 4137 4313 4747 498 5445 551 6194 627 6622 6623 6721 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	CDK5 GABRG1	1020 2565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112231	lissencephaly 7 with cerebellar hypoplasia Aliases: LIS7	CDK5	1020	Homo sapiens (human)	Alliance of Genome Resources
DOID:3454	brain infarction	ADIPOQ ADM ADNP ALDH2 CACNA2D1 CALCRL CD8A CFH CTSB CYP11B1 CYP11B2 CYP2R1 GPNMB GZMB HGF HIF1A HLA-DQA1 HMGB1 HTR2B ICAM1 IGF2 IL15 IL2 KCNK6 MDK MMP14 MMP8 MMP9 MSI1 NES PARG PDGFB PRCP SCN7A TBXAS1 TNF TPCN2	10203 10457 10763 120227 133 1508 1584 1585 217 219931 23394 3002 3075 3082 3091 3117 3146 3357 3383 3481 3558 3600 4192 4317 4318 4323 4440 5155 5547 6332 6916 7124 781 8505 925 9370 9424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 FLT4 PIEZO1 THSD1 TIE1 VEGFC	10203 2324 285 55901 7075 7424 9620 9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	Phkb	102093	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:219	colon cancer	Acvr2a Akt1 Akt3 Arid1a Azgp1 Bad Calr Ccl2 Chaf1a Col6a3 Cripto Esr2 Ezh2 Fgfr4 Gpx1 Gpx4 Gsk3b Hs3st2 Hsp90aa1 Ikbkb Il10 Il7r Kdm3a Lcn2 Lif Lrp1b Map2k3 Mapk14 Mki67 Mlh1 Mtor Mtus1 Nanog Nf1 Pparg Prkaa1 Ptpn13 Reg1 Rnf43 Rps6kb1 Slc7a5 Slco1b2 Smad2 Smad4 Smo Src Stat3 Tgfb1 Tgfb3 Tgfbr2 Tnfaip3 Tnfrsf10b Vegfa Wnt5a	102103 104263 105787 11480 11651 12007 12015 12317 12835 13983 14056 14186 14775 15519 16150 16153 16197 16819 16878 17126 17128 17345 17350 18015 19016 19249 195646 19692 20296 20539 207742 20779 20848 21667 21803 21809 21813 21929 21933 22339 22418 23797 26397 26416 27221 28253 319757 56637 56717 625249 71950 72508 93760 94217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	Adipoq Brinp3 Erbb3 Erbb4 Fos Fosl2 Gja1 Hgf Ifng Il10 Il1rl1 Il2 Jun Jund Map2k4 Met Mmp9 Mtus1 Slc3a2 Slc7a5 Sox2 Trp53	102103 11450 13867 13869 14281 14284 14609 15234 15978 16153 16183 16476 16478 17082 17254 17295 17395 20539 20674 215378 22059 26398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4001	ovarian carcinoma	Akt2 Amh Bmp7 Ccr5 Il13 Klk13 L1cam Map2k1 Mmp13 Mtus1 Pak1 Prkci Smad2 Vegfd	102103 11652 11705 12162 12774 14205 16163 16728 17126 17386 18479 18759 26395 626834	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	Abce1 Abcg2 Adam28 Cadm1 Car9 Cd46 Cd59a Cd59b Cd82 Cd9 Cdh13 Dcn Ddr1 Egfr Eno2 Ep300 Esr1 Fas Fzd1 Fzd2 H2-Eb1 Hdac1 Igf2r Kdm6b Kdr Mdc1 Msh6 Mtus1 Ncoa1 Pdgfra Pdgfrb Prss8 Smad2 Snw1 Tfrc Timp3 Vegfc Wnt2	102103 12305 12509 12521 12527 12554 13179 13522 13649 13807 13982 14102 14362 14969 16004 16542 17126 17221 17688 17977 18595 18596 216850 21859 22042 22341 22413 230099 240087 24015 26357 328572 333883 433759 54725 57265 66354 76560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	Abo Antxr1 Cfl1 Clptm1l Il10 Mtus1 Ptch1 Tgfa Tjp1 Tymp	102103 12631 16153 19206 21802 218335 21872 69538 72962 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4866	salivary gland adenoid cystic carcinoma Aliases: Cylindroma	Mtus1	102103	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:1787	pericarditis	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	ACSM3 ADD1 AGTR1 ATP1B1 CAT CDK7 CYP3A5 ECE1 ELN FGFR2 FTO HAVCR1 HSD11B1 LCN2 NOS3 NPPB NPR2 PTGIS PTPN1 RARRES2 RBP4 REN SLC12A3	1022 118 1577 185 1889 2006 2263 26762 3290 3934 481 4846 4879 4882 5740 5770 5919 5950 5972 6296 6559 79068 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ABCC8 AGTR2 AKT2 CDK7 CYP2C9 EPO GCK GLUD1 GRIN2B PPP1R3A PRL UCP3	1022 1559 186 2056 208 2645 2746 2904 5506 5617 6833 7352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	BMP2 BMPR1B CDK7 GDF5	1022 650 658 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050593	primary congenital glaucoma	CDK7	1022	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070418	vertebral hypersegmentation and orofacial anomalies Aliases: VHO	GDF11 MSTN	10220 2660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	CD96	10225	Homo sapiens (human)	Alliance of Genome Resources
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	APOB FSCN1 MSLN MTAP MUC1 MUC4 MUC5AC TYMP	10232 1890 338 4507 4582 4585 4586 6624	Homo sapiens (human)	Alliance of Genome Resources
DOID:4897	bile duct carcinoma	MSLN SLC7A5	10232 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:26	pancreas disease	MSLN	10232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources

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