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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 **1101 - 1125** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080143	congenital fibrosis of the extraocular muscles	KIF21A TUBB3	10381 55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM	34	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	ACADS	35	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADL ACADVL	33 37	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080158	herpes simplex virus keratitis Aliases: dendritic keratitis	APOE IL1RN TLR4	348 3557 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080159	Cryptococcal meningitis	CD274 MBL2 PDCD1	29126 4153 5133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	AGER APOC3 C3 CCL2 CD40LG CFB CFH COL1A1 CSF1 CTLA4 EGF FCGR2A HLA-DQA1 HLA-DRB1 IFNG IL1RN ITGAM KLKB1 MBL2 MPO NR3C1 PDCD1 SNRPE TLR9 TNF TNFRSF11B TNFRSF1A TNFRSF1B VCAM1	1277 1435 1493 177 1950 2212 2908 3075 3117 3123 345 3458 3557 3684 3818 4153 4353 4982 5133 54106 629 6347 6635 7124 7132 7133 718 7412 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080163	otulipenia Aliases: autoinflammation, panniculitis and dermatosis syndrome otulin-related autoinflammatory syndrome	OTULIN	90268	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080170	normophosphatemic familial tumoral calcinosis	SAMD9	54809	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	GLI2 NOG SHH	2736 6469 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080176	meningococcal meningitis	CD46 MARCO MMP13 MMP9 NOD2 TLR2 TLR4	4179 4318 4322 64127 7097 7099 8685	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	ADAMTS13 HFE MMP9	11093 3077 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080178	mucositis	ELANE MKI67 MUC2 MUC4 NOS2 PCNA ULK1	1991 4288 4583 4585 4843 5111 8408	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	ABHD12	26090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080187	chronic neutrophilic leukemia	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	ASXL1 CSF3R EZH2 KDM6A TET2	1441 171023 2146 54790 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080191	PTEN hamartoma tumor syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	ACTR2 AGER AKAP12 ANTXR1 BMI1 BRCA1 BRCA2 BRD7 CA12 CALU CAT CD59 CHI3L1 CSF1R CXCR4 EFNB2 ERCC6 EZH2 FUBP1 GPX2 GPX3 IL2 IL6 ITGB3 MAPK14 MBD4 MSH6 MYD88 NCOA2 NF1 PHF6 PIK3CA PTPRB RAC1 SELENOP SMAD4 SMARCC1 SRC STAT3 STRAP TP53 XPO1 XRCC1	10097 10499 1116 11171 1432 1436 177 1948 2074 2146 2877 2878 29117 2956 3558 3569 3690 4089 4615 4763 5290 5787 5879 6414 648 6599 6714 672 675 6774 7157 7514 7515 771 7852 813 84168 84295 847 8880 8930 9590 966	Homo sapiens (human)	Alliance of Genome Resources

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