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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 **11776 - 11800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	CYP11B1	1584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	FREM1	158326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	FRAS1 FREM1 FREM2 GRIP1	158326 23426 341640 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE AGTR2 ALDH1A2 ATP7A BMP4 CBL ELN EP300 FREM1 GATA4 HTR2A IGF2 IGFBP3 IGFBP5 LCN2 LRP1 MYRF NDST1 NOS3 NR2F2 PDGFRA PLS3 SFTPA1 SFTPA2 SFTPB SLC6A4 SLIT2 SLIT3 SOD1 SOD2 SOX7 TNF VEGFA	158326 1636 186 2006 2033 2626 3340 3356 3481 3486 3488 3934 4035 4846 5156 5358 538 6439 652 6532 653509 6586 6647 6648 7026 7124 729238 7422 745 83595 867 8854 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	Alliance of Genome Resources
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3 Aliases: generalized epilepsy and paroxysmal dyskinesia	KCNMA1 KCNU1	157855 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	CYP3A5 TGFB1 TP53	1577 7040 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	VPS13A VPS13B VPS13C	157680 23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABCB1 ACE ADIPOQ CAT CYP3A4 F2 IL6 LPA MEFV NOD2 POMC SERPINE1 THBD TLR4	1576 1636 2147 3569 4018 4210 5054 5243 5443 64127 7056 7099 847 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:10320	asbestosis	CYP2E1 NOS2 TNC	1571 3371 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	ARTN BDNF CYP2E1 FGFR1 GDNF IGFBP3 VEGFA	1571 2260 2668 3486 627 7422 9048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050868	hepatocellular adenoma	A2M CYP2E1 HNF1A HP HPR KRAS PTPN11	1571 2 3240 3250 3845 5781 6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ABCA1 ABCB1 ABCG8 ADIPOQ ALB APOB APOC2 APOE BCHE CCL2 CD40LG CYP2E1 F3 F7 GFPT1 HSD11B1 HSPA1B ITGAM KL LCAT LDLR LEP LIPC LPL MMP9 NOS3 RGN SDC1 SERPINC1 SERPINF2 SHC1 SMARCD1 TFPI TGFB1 VCAM1	1571 19 213 2152 2155 2673 3290 3304 338 344 348 3684 3931 3949 3952 3990 4023 4318 462 4846 5243 5345 590 6347 6382 64241 6464 6602 7035 7040 7412 9104 9365 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	Sdha	157074	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10579	leukodystrophy	Sdha	157074	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	Cdkn1b Sdha	157074 83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	Sdha Sdhb	157074 298596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Cdkn1b Dlst Sdha Sdhb Slc25a11	157074 298596 299201 64201 83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	Sdha Sdhb Shh Slco1b2 Stim1	157074 29499 298596 361618 58978	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	Atp5po Ndufa10 Ndufa10l1 Ndufs2 Ndufs4 Ndufs8 Sdha Sod2	157074 192241 24787 289218 293652 316632 499529 678759	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	Abcc2 Acvr1b Akt1 Akt3 Bad Bambi Cdh13 Cdkn1b Chi3l1 Chrna7 Chrnb4 Clptm1l Cxcr4 Egf Erbb3 Esr1 Fgf9 Fgfr1 Fgfr4 Hs3st2 Icam1 Idh2 Il1a Il1rn Itgb1 Itgb3 Kdr L1cam Lep Lta Met Mmp2 Mmp9 Nrp1 Pecam1 Prkaa1 Prkcb Ptgs2 Robo1 Runx1 Sdha Sftpb Sftpd Slc3a2 Spp1 Stim1 Tnf Tnfrsf1a Tp53 Ttr Tymp Ugt1a1 Vegfa	157074 192155 192248 24185 24493 24511 24553 246331 24835 24842 24856 24861 24890 25008 25023 25103 25114 25302 25303 25313 25350 25353 25444 25464 25589 25608 25625 29302 293451 29381 29414 29496 29527 29583 315219 316916 361596 361618 50567 50662 50687 58946 60582 60628 64639 65248 79114 81686 81687 83571 83785 83837 89824	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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