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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **4526 - 4550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Man1b1	227619	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070269	congenital disorder of glycosylation type IIq Aliases: CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation	COG2	22796	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	DOLK	22845	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:7732	childhood malignant schwannoma Aliases: pediatric MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)	DisGeNET
DOID:8369	adult malignant schwannoma Aliases: adult MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)	DisGeNET
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	ACOX1 ATP6V1A CHSY1 DHDDS MBL2 PIGL PIK3C2A PLD2 SYNJ1 XYLT1	22856 4153 51 523 5286 5338 64131 79947 8867 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	ACOX1 ATP6V1A CHSY1 DHDDS MBL2 PIGL PIK3C2A PLD2 SYNJ1 XYLT1	22856 4153 51 523 5286 5338 64131 79947 8867 9487	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB KHK	229 3795	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB	229	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	ARSA ARSB ARSG DEGS1 FUT1 GALC GALNS GBA1 GLB1 IDS PSAP SMPD1 STS SUMF1	22901 2523 2581 2588 2629 2720 285362 3423 410 411 412 5660 6609 8560	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)	DisGeNET
DOID:9335	scotoma Aliases: Blind spot area scotoma Enlarged angioscotoma Enlarged blind spot Enlarged paracaecal scotoma Generalized visual field contraction or constriction Scotoma of blind spot area Sector or arcuate visual field defects	ARSG	22901	Homo sapiens (human)	DisGeNET
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	ARSG	22901	Homo sapiens (human)	DisGeNET
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	BAAT SACM1L SELP	22908 570 6403	Homo sapiens (human)	DisGeNET
DOID:9544	refractory plasma cell neoplasm	CD38 CEACAM6 KLRK1 SDC1 SMUG1	22914 23583 4680 6382 952	Homo sapiens (human)	DisGeNET
DOID:11168	anogenital venereal wart Aliases: Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart	FCN3 G6PD GLB1 IDUA KLRK1 MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 STS TLR2 TLR4 TNF	22914 2539 2720 3425 412 4153 5290 5291 5293 5294 57104 7097 7099 7124 8547	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4394	reticulohistiocytic granuloma Aliases: Reticulohistiocytoma solitary reticulohistiocytoma	KLRK1 LYZ MTAP	22914 4069 4507	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4231	histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4419	benign deep fibrous histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET
DOID:495	sclerosing hemangioma Aliases: Sclerosing haemangioma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 VCAM1	22914 5290 5291 5293 5294 5728 7412 81031	Homo sapiens (human)	DisGeNET
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	CD22 CD38 KLRK1	22914 933 952	Homo sapiens (human)	DisGeNET
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)	Alliance of Genome Resources

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