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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **301 - 325** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:11200	T cell deficiency Aliases: T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLOD3	8985	Homo sapiens (human)
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)
DOID:11219	conjunctival folliculosis Aliases: acute follicular conjunctivitis	PLD3	23646	Homo sapiens (human)
DOID:13014	shipyard eye Aliases: EKC Epidemic keratoconjunctivitis	PLD3	23646	Homo sapiens (human)
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:9341	urethral diverticulum	PLD1	5337	Homo sapiens (human)
DOID:6367	acral lentiginous melanoma Aliases: acral lentiginous melanoma, malignant malignant acral lentiginous melanoma	PLD1 PTEN	5337 5728	Homo sapiens (human)
DOID:0080633	developmental cardiac valvular defect	PLD1 PLD2	5337 5338	Homo sapiens (human)
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)
DOID:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	PLA2G6	8398	Homo sapiens (human)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)

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