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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 **4826 - 4850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	eogt notch1a	30718 798087	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	Pdgfra	25267	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	W01C8.5	180836	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4762	vasculogenic impotence	Angpt2 Apod Tgfbr2	11601 11815 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	ace	565980	Danio rerio (zebrafish)	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:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	SUMF1	285362	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	Bad Cftr Clu Esr1 Fgf7 Igf1r Il13 Kdr Myc Pdgfb Pdgfd Ptgs2	116553 24255 24577 24628 24854 24890 25589 25718 29348 29527 64639 66018	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	Atp2b2 Col11a1 Epha10 Grhl2 Map1b	11941 12814 17755 230735 252973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	Foxo1	56458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	ACVR1 COL18A1 MYRF	745 80781 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	Cacna2d4	319734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	Aldh18a1	56454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1554	vibratory urticaria	Adgre5	26364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080010	bone structure disease	Postn Qrfpr	229214 50706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	Dlat Pdha1 Pdha2 Pdhb Pdhx	18597 18598 235339 27402 68263	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	Ndufb11	299310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	emc-1	173524	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	Abcb1b Akt2 Angpt2 Araf Areg Atg7 Atrx Bad Bcan Bdkrb2 Braf Camk2a Cd80 Chaf1a Cntn2 Csf1 Ctsb Cxcr3 Dcn Ddr1 Dlk1 Efemp1 Egf Egfr Entpd2 Epo Epor Erbb2 F2 Fgfr1 Fgfr2 Fgfr4 Flt3l Gja1 Hgf Hmgb1 Hspa5 Idh1 Idh2 Ifng Igf1r Igfbp3 Il10 Il2 Il7 Insr Insrr Kdr Kras Lta Map2k1 Met Mki67 Mmp2 Mtor Nf1 Nos3 Pdgfa Pdgfb Pik3cb Prkci Prkcz Rnf43 Sh3gl1 Sirt2 Slc44a1 Slc6a3 Slc7a5 Spp1 St6gal1 Tnc Tnf Trp53	100434 109880 11601 11652 11836 11839 12015 12032 12062 12305 12322 12496 12519 12766 12977 13030 13162 13179 13386 13645 13649 13856 13857 13866 14061 14182 14183 14186 14256 14609 14828 15234 15289 15926 15978 16001 16009 16153 16183 16196 16337 16542 16653 16992 17295 17345 17390 18015 18127 18590 18591 18669 18759 18762 20405 20440 20539 20750 207742 21367 216616 21923 21926 22059 22589 23920 26395 269951 27221 56717 64383 74244 74769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2559	opiate dependence Aliases: Opioid type dependence	comta comtb ngfb vegfaa	30682 561372 565370 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	fktn	100124956	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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