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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 **11551 - 11575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	dlp	39596	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080844	omodysplasia 1	dlp	39596	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	LHB	3972	Homo sapiens (human)	Alliance of Genome Resources
DOID:3114	serous cystadenocarcinoma Aliases: serous adenocarcinoma serous carcinoma	LHCGR TP53 XPC	3973 7157 7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:3603	mucinous cystadenocarcinoma Aliases: Pseudomucinous cystadenocarcinoma	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:2277	gonadal disease	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070182	spermatogenic failure 13 Aliases: SPGF13	Taf4	39765	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	wnt4.L	397706	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110040	Alzheimer's disease 4 Aliases: AD4 Alzheimer disease 4 Alzheimer disease, familial4 Alzheimer's disease 4, early onset	psen2.S	397713	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	psen2.S	397713	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	col2a1.L ext1.L ext1.S	397738 398214 399115	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:5614	eye disease	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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