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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 **10726 - 10750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	KRT17 NECTIN1 WNT10A	3872 5818 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	GALNT3 GOLGB1 KL	2591 2804 9365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	HLA-B IL10 IL17A TNF	3106 3586 3605 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features melancholia	MORC1	27136	Homo sapiens (human)	Alliance of Genome Resources
DOID:1272	telangiectasis Aliases: telangiectasia	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:11123	Henoch-Schoenlein purpura Aliases: Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune	ACE AGT CCL2 CD86 HLA-DQA1 IL1RN IL5 KNG1 MEFV PLAT PON1	1636 183 3117 3557 3567 3827 4210 5327 5444 6347 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ	285203 3516 4851 54567 57514 57572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	ABCD3	5825	Homo sapiens (human)	Alliance of Genome Resources
DOID:1003	pelvic inflammatory disease Aliases: PID	IL4 PTX3	3565 5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:12351	alcoholic hepatitis Aliases: acute alcoholic hepatitis acute alcoholic liver disease	ABCB11 AGT AHR ALB CCL2 CCL5 COL1A1 CPT1A CYP7A1 DDR1 FAS ICAM1 IL13 NFKB1 PPARA SLC10A1 SREBF1 TNF	1277 1374 1581 183 196 213 3383 355 3596 4790 5465 6347 6352 6554 6720 7124 780 8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)	Alliance of Genome Resources
DOID:14320	generalized anxiety disorder	GPER1 HTR1A HTR1B HTR1D HTR1E HTR2B NR3C1 SLC6A4 ZNF462	2852 2908 3350 3351 3352 3354 3357 58499 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	SLC24A1	9187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111992	immunodeficiency 53 Aliases: IMD53	RELB	5971	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	MNT PAFAH1B1 YWHAE	4335 5048 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	SPARC	6678	Homo sapiens (human)	Alliance of Genome Resources
DOID:12556	acute kidney tubular necrosis Aliases: ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis	BMP7 HAVCR1 NOG TEK	26762 655 7010 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	MLH1 MSH2 MSH6 POLE RNASET2 SLC22A9 TGFBR2 TP53	114571 2956 4292 4436 5426 7048 7157 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:350	mastocytosis Aliases: mast cell hyperplasia	IL13 IL5RA KIT	3568 3596 3815	Homo sapiens (human)	Alliance of Genome Resources

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