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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 **3401 - 3425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:9544	refractory plasma cell neoplasm	CD38 CEACAM6 KLRK1 SDC1 SMUG1	22914 23583 4680 6382 952	Homo sapiens (human)
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)
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	ARSG	22901	Homo sapiens (human)
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)
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)
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)
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB	229	Homo sapiens (human)
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB KHK	229 3795	Homo sapiens (human)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)
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)
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)
DOID:8369	adult malignant schwannoma Aliases: adult MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)
DOID:7732	childhood malignant schwannoma Aliases: pediatric MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
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)
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)
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Man1b1	227619	Mus musculus (house mouse)
DOID:5273	cutaneous leiomyosarcoma Aliases: leiomyosarcoma of the skin	FH	2271	Homo sapiens (human)
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)
DOID:5132	leiomyoma cutis Aliases: Cutaneous leiomyoma leiomyoma of the skin	FH	2271	Homo sapiens (human)
DOID:5127	bizarre leiomyoma Aliases: Atypical leiomyoma Pleomorphic leiomyoma Symplastic leiomyoma	FH	2271	Homo sapiens (human)
DOID:3267	mucinous ovarian cystadenoma Aliases: Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary	FH	2271	Homo sapiens (human)
DOID:5138	leiomyomatosis	CD44 FH	2271 960	Homo sapiens (human)
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	ACO2 FH	2271 50	Homo sapiens (human)
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	FH PNP SDHB SORD	2271 4860 6390 6652	Homo sapiens (human)

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