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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5926 - 5950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)
DOID:0050876	Caroli disease	PKD1	5310	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	PKLR SPTLC1	10558 5313	Homo sapiens (human)
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:0111246	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Aliases: ALS-PDC Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome Guam disease Lytico-Bodig disease PDALS amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam parkinsonism-dementia-ALS complex	PLA2G4A PTGS2	5321 5743	Homo sapiens (human)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	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:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)
DOID:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	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:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:0080633	developmental cardiac valvular defect	PLD1 PLD2	5337 5338	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:9341	urethral diverticulum	PLD1	5337	Homo sapiens (human)
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:13014	shipyard eye Aliases: EKC Epidemic keratoconjunctivitis	PLD3	23646	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)

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