GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4201 - 4225** of **7942** in total

« First

‹ Prev

…

165

166

167

168

169

170

171

172

173

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	DHCR24 LFNG	1718 3955	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7079	adult cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)	DisGeNET
DOID:2660	cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)	DisGeNET
DOID:5565	adult teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)	DisGeNET
DOID:5566	mature teratoma	ACAT1 ALPP DHCR24 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN	1718 2331 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5563	malignant teratoma Aliases: Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN SMUG1	1718 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3307	teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PGM3 PSMD10 PTEN SMUG1 TYMP	1718 1890 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5238 5716 5728	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3663	cutaneous mastocytosis Aliases: CM	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)	DisGeNET
DOID:3665	diffuse cutaneous mastocytosis	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)	DisGeNET
DOID:12309	urticaria pigmentosa Aliases: UP/MPCM	CD44 CD72 DHCR24 DLD ENOSF1 ENPP3 GPX1 HSPG2 ICAM1 IDH2 MCAT	1718 1738 27349 2876 3339 3383 3418 5169 55556 960 971	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)	DisGeNET
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Aliases: AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome	ACACA ANXA5 CD38 DHCR7 G6PD GOLPH3 PGK1 PTEN PTGS2 SFTPC	1717 2539 308 31 5230 5728 5743 64083 6440 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14793	hypohidrotic ectodermal dysplasia	ACACA CD38 DHCR7 G6PD GOLPH3 LYZ PGK1 PTGS2 SLC17A5	1717 2539 26503 31 4069 5230 5743 64083 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3159	photosensitivity disease Aliases: Photodermatitis	DHCR7 EPM2A FDPS KDSR PTGS2	1717 2224 2531 5743 7957	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	ACADSB DHCR7 FDFT1 SC5D STS	1717 2222 36 412 6309	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10944	tongue disease	DHCR7 FCN2 HPGDS PLCB4 PTDSS1	1717 2220 27306 5332 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11514	fissured tongue Aliases: Congenital fissure of tongue Congenital plicated tongue Fissure of tongue Fissure of tongue, congenital Furrowed tongue Plicated tongue Tongue, Fissured geographic tongue and fissured tongue lingua plicata scrotal tongue	DHCR7 FCN2 HPGDS PIK3CA PTEN SDHB SDHC SDHD	1717 2220 27306 5290 5728 6390 6391 6392	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060336	3-methylglutaconic aciduria	ACADSB AGK DHCR7 ECHS1	1717 1892 36 55750	Homo sapiens (human)	DisGeNET
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)	DisGeNET
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	DHCR7 DLD FUT4 GMDS SLC35C1	1717 1738 2526 2762 55343	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	DHCR7 DLD FUT4 KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 SLC35C1 VCAM1	1717 1738 22914 2526 5290 5291 5293 5294 55343 5728 7412 81031	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	Man2b1	17159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	17158	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	Man2a1 Pgf Tnf	17158 18654 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements