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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 **3426 - 3450** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	BDNF CNGA3 TYR	1261 627 7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:1340	pure red-cell aplasia Aliases: Red cell hypoplasia primary red cell aplasia pure red cell aplasia	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO BDNF C3 CCL5 CCR5 CCR7 CFTR CHI3L1 CXCR3 DEFB1 EGR1 HLA-DRB1 IL15 IL18R1 IL1RN LTA MUC1 NGF NOD2 NOS2 NR3C1 NTF3 NTRK1 SFTPA1 TGFB1 TLR2 TNC TNF TNFRSF1B	1080 1116 1234 1236 1672 1958 28 2833 2908 3123 3371 3557 3600 4049 4582 4803 4843 4908 4914 627 6352 64127 653509 7040 7097 7124 7133 718 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ABCB1 CCL2 EPOR G6PD GABRA1 GABRB1 GABRG2 GC GLUD1 GLUD2 GRIA1 HIF1A INSR NOS1 NOS2 PTGS1	2057 2539 2554 2560 2566 2638 2746 2747 2890 3091 3643 4842 4843 5243 5742 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:13452	scleritis	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	FGFR3 HSPG2	2261 3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	ANXA1 ANXA2 TP53	301 302 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:13514	venous tributary occlusion of retina Aliases: Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina	ITGA2 SERPINF1	3673 5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	BMP4 EIF4EBP1 FLNA MMP9 RHEB TSC1 TSC2	1978 2316 4318 6009 652 7248 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	CLCN3 CLCN5 CSF1 GHR LRRK1 MITF PLEKHM1 SLC4A2	1182 1184 1435 2690 4286 6522 79705 9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:13543	hyperparathyroidism	CASR CDC73 MYC TRPV6	4609 55503 79577 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ADRB1 APOE BDNF EDN1 HSPD1 MYOC OPTN SLC1A1 SLC1A3 SOD1 TLR4 TNF TP53	10133 153 1906 3329 348 4653 627 6505 6507 6647 7099 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	APOE CAT EDN1 HGF LOXL1 MMP9 MUC5AC NOS3 TFAP2B	1906 3082 348 4016 4318 4586 4846 7021 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	AGER CD209 CLEC1A CLEC7A IL15 TLR1 TLR6	10333 177 30835 3600 51267 64581 7096	Homo sapiens (human)	Alliance of Genome Resources
DOID:13576	twin-to-twin transfusion syndrome Aliases: Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin Twin to twin transfusion Twin-to-twin blood transfer	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ABCB11 ABCB1 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ACE ADAMTS13 ADH5 ALB APOC3 APOE BMAL1 CAT CD14 CD44 CFTR CLOCK COL1A1 CP CYP3A5 CYP7A1 ENG G6PD HP HPR IL1A IL4 LAMP2 MMP2 NOS3 PDGFB PRKAA1 PYGM SLC10A1 SLCO1A2 SLCO1B1 SLCO1B3 TIMP1 TJP1 UTP4 VPS33B	10257 10599 1080 11093 1244 1277 128 1356 1577 1581 1636 2022 213 2539 26276 28234 3240 3250 345 348 3552 3565 3920 406 4313 4846 5155 5243 5244 5562 5837 64240 64241 6554 6579 7076 7082 847 84916 8647 8714 929 9575 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	ADM ALB CCL2 CD14 CFH HMGB1 IRF5 LBP PCNA UCP2	133 213 3075 3146 3663 3929 5111 6347 7351 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADD3 ADIPOQ CD14 DLK1 GGT1 GLI2 ICAM1 PTEN SHH SPINT1 SPINT2 SPP1 TGFB1	10653 120 2678 2736 3383 5728 6469 6692 6696 7040 8788 929 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ABCA1 ABCC4 CYP27A1 CYP7A1 CYP8B1 HMGCS2 HNF1A LGALS1 NFE2L2 OPRM1 PDGFRB SETD7 SLC22A1 SLC22A2	10257 1581 1582 1593 19 3158 3956 4780 4988 5159 6580 6582 6927 80854	Homo sapiens (human)	Alliance of Genome Resources
DOID:13628	favism	G6PD	2539	Homo sapiens (human)	Alliance of Genome Resources

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