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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 **3876 - 3900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050850	diabetic encephalopathy	AGER APP GSK3B NGFR PPARG	177 2932 351 4804 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111683	neurofibromatosis-Noonan syndrome Aliases: NFNS Noonan neurofibromatosis syndrome neurofibromatosis type 1-Noonan syndrome neurofibromatosis with Noonan phenotype	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:11240	appendiceal neoplasm Aliases: appendix neoplasm neoplasm of appendix	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44	960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	MLH1	4292	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	LFNG	3955	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070340	classic citrullinemia	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110247	cataract 36 Aliases: CATC4 CTRCT36 autosomal recessive congenital cataract 4	TDRD7	23424	Homo sapiens (human)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070098	oculocutaneous albinism type IV Aliases: OCA4	SLC45A2	51151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	KIF4A	24137	Homo sapiens (human)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	MET PRKCA STRAP	11171 4233 5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ADAMTSL2 AGER AGT AKT1 BAD BAX CFL1 CNR1 EDN1 EDNRA HDAC3 HDAC4 IGFBP3 IL6 KDR MCAM NOS1 NOS2 NOS3 P2RY1 P2RY2 PDE5A PRKG1 SIRT1 TGFB1 THBD TNF XRCC1	1072 1268 177 183 1906 1909 207 23411 3486 3569 3791 4162 4842 4843 4846 5028 5029 5592 572 581 7040 7056 7124 7515 8654 8841 9719 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	ALX4 ARX IQSEC2	170302 23096 60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	RBP3	5949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources

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