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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 **3776 - 3800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 Cox5a Cox6c	252934 26195 54322	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 COX4I2	4512 84701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070485	mitochondrial complex IV deficiency nuclear type 23 Aliases: MC4DN23	COX11	1353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050711	aceruloplasminemia	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:12119	hemosiderosis Aliases: haemosiderosis	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	CPN1	1369	Homo sapiens (human)	Alliance of Genome Resources
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	CPOX	1371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	CPR5	851898	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	CPS1 ITGAM NOS3 PTEN	1373 3684 4846 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	CPT1A	1374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	CPT1C	126129	Homo sapiens (human)	Alliance of Genome Resources
DOID:936	brain disease Aliases: encephalopathy	CPT2 Eno Nup214 SerT Stim	32556 33351 37895 38355 46091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080000	muscular disease	CPT2 Hmgcr mew	32275 38355 42803	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	CPT2	38355	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081150	common variable immunodeficiency 7	CR2	1380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	CRAT FTH1 NDUFAB1 REPS1	1384 2495 4706 85021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1 EYS	23418 346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111625	ventriculomegaly - cystic kidney disease Aliases: VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:11206	opioid abuse	CREB1 DRD4 FOSB GRIN1 GRIN2A GRIN2B NCAM1 NR3C1 OPRD1 OPRK1 OPRM1	1385 1815 2354 2902 2903 2904 2908 4684 4985 4986 4988	Homo sapiens (human)	Alliance of Genome Resources

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