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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 **4151 - 4175** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060545	Hermansky-Pudlak syndrome 7	DTNBP1	84062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060540	Hermansky-Pudlak syndrome 2	AP3B1	8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD	6389 6390 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	AIFM1 ELAC2 NDUFS1 SLC25A10	1468 4719 60528 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060532	latex allergy	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060500	drug allergy	IL2	3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060496	respiratory allergy Aliases: airway allergy	F2RL1 IL13 MBL2 NOS2 NOS3 TLR4	2150 3596 4153 4843 4846 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	KLC2	64837	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	SMARCAL1	50485	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	CNTNAP2 TCF12 TCF3 TCF4	26047 6925 6929 6938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	DCTN1	1639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060482	oculoauricular syndrome	HMX1	3166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	CHD4 DTNA PRDM16 SLC39A8 YWHAE	1108 1837 63976 64116 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	EFL1 EIF6 RPL3 SERPINI2 SRP54	3692 5276 6122 6729 79631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	CHD2 FMR1 ROBO1 ROBO2 ROBO3 SLC25A10 SLC6A1 VARS1	1106 1468 2332 6091 6092 64221 6529 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	KDM6A KMT2D UTY	7403 7404 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	MNT PAFAH1B1 YWHAE	4335 5048 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060464	Feingold syndrome Aliases: FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome	MYCN	4613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CANT1 XYLT1	124583 64131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060453	Reis-Bucklers corneal dystrophy Aliases: RBCD anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	MCOLN1	57192	Homo sapiens (human)	Alliance of Genome Resources

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