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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 **11226 - 11250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12987	agranulocytosis Aliases: Granulocytopenic disorder Granulopenia granulocytopenia	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGER EDN1	177 1906 50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111988	immunodeficiency 12 Aliases: IMD12 combined immunodeficiency due to MALT1 deficiency	MALT1	10892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111950	immunodeficiency 29 Aliases: IL12B deficiency IMD29 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency immunodeficiency 29, mycobacteriosis	IL12B	3593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060009	MHC class I deficiency Aliases: BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I	TAP1	6890	Homo sapiens (human)	Alliance of Genome Resources
DOID:12978	Plasmodium vivax malaria Aliases: Malaria by Plasmodium vivax Vivax Malaria	ACKR1	2532	Homo sapiens (human)	Alliance of Genome Resources
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	CCL2 CCN2 CX3CL1 EDN1 F13A1 F2 F5 FGA FGB FGG FTO HP HPR MMP2 MMP9 NOS3 NPPB PROC TBXAS1 VCAM1	1490 1906 2147 2153 2162 2243 2244 2266 3240 3250 4313 4318 4846 4879 5624 6347 6376 6916 7412 79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:5627	adenosquamous gallbladder carcinoma Aliases: Adenosquamous carcinoma of the gallbladder	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111943	immunodeficiency 48 Aliases: IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency	ZAP70	7535	Homo sapiens (human)	Alliance of Genome Resources
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARID1A KMT2C KRAS PREX2	3845 58508 80243 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:5572	Beckwith-Wiedemann syndrome	SPTBN1	6711	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:5679	retinal disease	APOE AQP4 CAT CEPT1 CHPT1 GFAP GRK1 IL10 MAP2K3 PISD PLCB4 PRPH2 THY1	10390 23761 2670 348 3586 361 5332 5606 56994 5961 6011 7070 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	CAD UMPS	7372 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111031	hemochromatosis type 5 Aliases: FTH1-associated iron overload FTH1-related iron overload HFE5	FTH1	2495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	BMP4 MMP9 TIMP1	4318 652 7076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050983	spinocerebellar ataxia type 36	NOP56	10528	Homo sapiens (human)	Alliance of Genome Resources
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	LDB3 MBNL1 MBNL2 SIX4 SIX5	10150 11155 147912 4154 51804	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	Homo sapiens (human)	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	ABCG2 AGER APOB APOC2 APOC3 APOE APOH AQP1 AQP4 BMAL1 BMP5 BMP6 BMP7 BMP8A BMP8B CCL5 CD40LG CDH1 CDKAL1 CFTR CLOCK CPB2 CSF1R CTSB CYP11B2 CYP1A1 CYP2C9 CYP51A1 DLL4 EGFR F3 F7 FN1 FUCA1 G6PD GAD1 GC GCK GGT1 GIPR HFE HGF HMGCR HP ICAM1 IGF1R IL10 IL2RA IL6 INS INSR INSRR ITGA2 KCNJ11 LRP1 MAFA MMP3 NPPB OGT PDX1 PPARA PROM1 PTEN PTPN1 PTPRD PTPRN2 PTPRN SERPINA7 SERPINE1 SHBG SIRT1 SLC19A2 SLC22A12 SLC2A1 SLC2A3 SOD3 SRD5A2 TFPI TGFB1 TIMP1 TLR4 UCP3 VIM WFS1	10560 1080 116085 1361 1436 1508 1543 1559 1585 1595 177 1956 2152 2155 2335 23411 2517 2539 2571 2638 2645 2678 2696 3077 3082 3156 3240 338 3383 344 345 348 3480 350 353500 3559 3569 358 3586 361 3630 3643 3645 3651 3673 3767 389692 4035 406 4314 4879 5054 54567 5465 54901 5728 5770 5789 5798 5799 6352 6462 6513 6515 653 654 655 656 6649 6716 6906 7035 7040 7076 7099 7352 7431 7466 8473 8842 9429 9575 959 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110217	Leber congenital amaurosis 17 Aliases: LCA17	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	TMPRSS15	5651	Homo sapiens (human)	Alliance of Genome Resources

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