GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **10976 - 11000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070227	intrahepatic cholestasis of pregnancy Aliases: ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy	HDAC3	8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:5463	cochlear disease	IL6 SLC17A8 TNF	246213 3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACVRL1 ENG GLMN MAP2 MMP9 RASA1 TEK	11146 2022 4133 4318 5921 7010 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081182	autosomal recessive intellectual developmental disorder 6	GRIK2	2898	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome Aliases: ACC with abnormal genitalia Proud syndrome Proud-Levine-Carpenter syndrome corpus callosum agenesis with abnormal genitalia microcephaly-corpus callosum agenesis-abnormal genitalia syndrome	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110025	age related macular degeneration 13 Aliases: ARMD13	CFI	3426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ APOA4 CTLA4 F3 FAS FASLG FCGR3A HGF HLA-A HLA-B HLA-C HLA-DPB1 HLA-E HLA-F HLA-G HSPA1A HSPA1B HSPA8 IFNG IL10 IL10RB IL1A IL1RN IL2 JAK3 MKI67 NOD2 PDGFB SELL TFPI TP53 VEGFA	1493 2152 2214 28 3082 3105 3106 3107 3115 3133 3134 3135 3303 3304 3312 337 3458 355 3552 3557 3558 356 3586 3588 3718 4288 5155 6402 64127 7035 7157 7422 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081289	Antley-Bixler syndrome Aliases: Antley Bixler syndrome Antley and Bixler's syndrome	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3 Aliases: ENFL3 nocturnal frontal lobe epilepsy 3	CHRNB2	1141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	SKIC3	9652	Homo sapiens (human)	Alliance of Genome Resources
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	BDKRB1 CCL2 CD28 CD40LG EPO F3 FAS FASLG FN1 GP1BA GPX1 HLA-DRB1 ICAM1 IL1RN ITGAM MMP14 NOS2 NOS3 PLAT PON1 RBP4 SERPINE1 SOD1 SOD2 SPARC TNF VEGFA	2056 2152 2335 2811 2876 3123 3383 355 3557 356 3684 4323 4843 4846 5054 5327 5444 5950 623 6347 6647 6648 6678 7124 7422 940 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:6420	pulmonary valve stenosis	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070472	early-onset epilepsy 3 Aliases: EPEO3	ATP6V0C	527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080074	neural tube defect	CBS CRIPTO FUZ LRP6 MTHFD1 MTHFD1L TBXT	25902 4040 4522 6862 6997 80199 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111853	primary ciliary dyskinesia 40 Aliases: CILD40 primary ciliary dyskinesia 40 with or without situs inversus	DNAH9	1770	Homo sapiens (human)	Alliance of Genome Resources
DOID:3891	placental insufficiency	AGTR1 CYP19A1 EMP2 EPO GRIN1 GRIN2A GRIN2B ITGA2 PDX1 PPARGC1A SERPINE1	10891 1588 185 2013 2056 2902 2903 2904 3651 3673 5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	IL17A SERPINA1 TLR2 TLR4	3605 5265 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:571	median neuropathy	EGFR ERBB2 ERBB3 ERBB4 MT1E MT1H MT2A NRG1	1956 2064 2065 2066 3084 4493 4496 4502	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	EGF	1950	Homo sapiens (human)	Alliance of Genome Resources
DOID:5750	endometrial serous adenocarcinoma Aliases: uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma	BRCA2 POLE	5426 675	Homo sapiens (human)	Alliance of Genome Resources
DOID:7941	Barrett's adenocarcinoma Aliases: Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa	GPX3 GPX7	2878 2882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111579	asthma, nasal polyps, and aspirin intolerance Aliases: ASA triad	PTGER2	5732	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 CHRM3 IKZF3 IL6 RB1 TERT TNF WIF1	1116 11197 1131 22806 3569 5925 7015 7124	Homo sapiens (human)	Alliance of Genome Resources

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