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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 **3451 - 3475** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	BRCA2 FANCD2 FANCG FANCM FLT3LG IFNG IL10 PRF1 RAD51C TNF	2177 2189 2323 3458 3586 5551 57697 5889 675 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	ACVR1 APOE CLU EDN1 ELN LOXL1 LYST MMP1 MMP9 OPTN PON1 SOD2 STRA6 TLR4	10133 1130 1191 1906 2006 348 4016 4312 4318 5444 64220 6648 7099 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:13689	prostate calculus Aliases: Prostatic lithiasis Prostatic stone Stone of prostate calculus of prostate	LTF	4057	Homo sapiens (human)	Alliance of Genome Resources
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	DKK1 GLI3 MMP13 MMP9	22943 2737 4318 4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CIITA CLEC16A HLA-DQB1 HLA-DRB1	23274 3119 3123 4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:13777	epidermodysplasia verruciformis	IL7 TMC6 TMC8	11322 147138 3574	Homo sapiens (human)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ADRB3 AFP AKT2 APC APEX1 AR ATM ATR BAD BRCA2 BST2 CD59 CD9 CDC25B CDH1 CHI3L1 COMT CYP19A1 CYP1A1 CYP1A2 EFEMP2 EGF ERRFI1 IL10 JAK1 JUP LTA MRE11 MSH6 NOTCH1 NOTCH4 PGM1 PIK3CB PIK3CD POLE PTEN RNF43 RUNX1 SHBG SPAG9 SULT1E1 TFF1 TNFRSF1A TNFRSF1B TP53 TYMP UGT1A1	1116 1312 1543 1544 155 1588 174 1890 1950 208 2956 30008 324 328 3586 367 3716 3728 4049 4361 472 4851 4855 5236 5291 5293 54206 5426 545 54658 54894 572 5728 6462 675 6783 684 7031 7132 7133 7157 861 9043 928 966 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ADD1 ALPL APOA2 APOB APOC3 APOE LIPC LPL SERPINE1 THBD VWF	118 249 336 338 345 348 3990 4023 5054 7056 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ADRB2 APOA1 APOB APOE EPHX2 GHR GK LDLR MMP9 PCSK9 PON2 RBP4 SERPINE1	154 2053 255738 2690 2710 335 338 348 3949 4318 5054 5445 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	KDR VEGFA	3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	ABCA1 APOA1	19 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN1 HCN4 SCN5A	10021 183 287 348980 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:1389	polyneuropathy	APOA4 FCGR3A HLA-DRB1 IL6 SERPINE1 SOD2 SOD3	2214 3123 337 3569 5054 6648 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:13891	bird fancier's lung Aliases: Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung	MUC1	4582	Homo sapiens (human)	Alliance of Genome Resources
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	APOB APOC2 PCSK9	255738 338 344	Homo sapiens (human)	Alliance of Genome Resources
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	OPN1MW	2652	Homo sapiens (human)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	LCAT	3931	Homo sapiens (human)	Alliance of Genome Resources
DOID:13910	red color blindness Aliases: Protan defect Protanopia	OPN1LW	5956	Homo sapiens (human)	Alliance of Genome Resources
DOID:13922	eosinophilic esophagitis	CD40LG CYP2C19 PECAM1 TGFB1	1557 5175 7040 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13929	lacrimal duct obstruction Aliases: Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts	IGSF3	3321	Homo sapiens (human)	Alliance of Genome Resources
DOID:13934	facial paralysis Aliases: Facial Palsy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources

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