GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1051 - 1075** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLG1	8802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080131	mitochondrial DNA depletion syndrome 13 Aliases: FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type	FBXL4	26235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	NFU1	27247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080135	multiple mitochondrial dysfunctions syndrome 3 Aliases: IBA57 deficiency	IBA57	200205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080136	multiple mitochondrial dysfunctions syndrome 4	ISCA2	122961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080141	mosaic variegated aneuploidy syndrome 1	BUB1B	701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080142	mosaic variegated aneuploidy syndrome 2	CEP57	9702	Homo sapiens (human)	Alliance of Genome Resources
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

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