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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 **12501 - 12525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	FLG LBR	2312 3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060848	developmental and epileptic encephalopathy 9 Aliases: DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation	PCDH19	57526	Homo sapiens (human)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA1S CACNG1 RYR1 RYR2 RYR3	6261 6262 6263 779 786	Homo sapiens (human)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	TOR1AIP1	26092	Homo sapiens (human)	Alliance of Genome Resources
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	CALR DAXX	1616 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3	23767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	FGF9 GDF5	2254 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACE COL1A2 GALNT1 HTR2B LRP5 MMP2 MMP9 TNF	1278 1636 2589 3357 4041 4313 4318 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:447	renal tubular transport disease Aliases: inborn renal tubular transport disorder	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)	Alliance of Genome Resources
DOID:750	peptic ulcer disease Aliases: acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation	CNR1 CYP2C19 HLA-DRB1	1268 1557 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	RTN1 RTN2 RTN3 RTN4	10313 57142 6252 6253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AMBN	258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050683	Bothnia retinal dystrophy Aliases: Vasterbotten dystrophy	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112231	lissencephaly 7 with cerebellar hypoplasia Aliases: LIS7	CDK5	1020	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GCSH GLDC SLC6A9	2653 2731 275 6536	Homo sapiens (human)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	CCL2 CHI3L1 CSF2 DLL1 ELN FCGR2A FCGR3A HLA-DRB1 IFNG IL17A IL21R IL4 JAG1 MBL2 MFGE8 MMP2 MMP9 TLR4	1116 1437 182 2006 2212 2214 28514 3123 3458 3565 3605 4153 4240 4313 4318 50615 6347 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ANXA5 ATP7A ATP7B CP CYP27B1 HMGCR SMPD1	1356 1594 308 3156 538 540 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:3025	acinar cell carcinoma Aliases: acinic cell carcinoma	APC	324	Homo sapiens (human)	Alliance of Genome Resources

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