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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 **9926 - 9950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110995	Joubert syndrome 26 Aliases: JBTS26	KATNIP	23247	Homo sapiens (human)	Alliance of Genome Resources
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	CAT IL17A IL4R TLR2 TLR4 TNF TNFRSF1A TNFRSF1B	3566 3605 7097 7099 7124 7132 7133 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110987	Joubert syndrome 18 Aliases: JBTS18	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111947	immunodeficiency 21 Aliases: DCML GATA2 deficiency IMD21 MonoMAC combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections dendritic cell, monocyte, B and NK lymphoid deficiency monocyte-B-natural killer-dendritic cell deficiency syndrome monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections	GATA2	2624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070011	Seckel syndrome 7 Aliases: SCKL7	NIN	51199	Homo sapiens (human)	Alliance of Genome Resources
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	MBL2 TLR5	4153 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110411	retinitis pigmentosa 60 Aliases: RP60	PRPF6	24148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050961	spinocerebellar ataxia type 11	TTBK2	146057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	CCL11 NPHS1	4868 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:2998	testicular cancer Aliases: childhood neoplasm of the testis neoplasm of testis pediatric testicular neoplasm testicular tumor testis cancer testis neoplasm	PINK1 SLCO1B3 TP53	28234 65018 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:7843	female breast carcinoma Aliases: Mammary carcinoma of female breast	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	ACVR1 APOE CLU EDN1 ELN LOXL1 LYST MMP1 MMP9 OPTN PON1 SOD2 STRA6 TLR4	10133 1130 1191 1906 2006 348 4016 4312 4318 5444 64220 6648 7099 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111188	myofibrillar myopathy 9 Aliases: Edstrom myopathy HIBM-ERF HMERF Hereditary inclusion body myopathy with early respiratory failure MFM-titinopathy MFM9 MPRM Myofibrillar myopathy-titinopathy autosomal dominant distal myopathy with early respiratory failure hereditary myopathy with early respiratory failure myofibrillar myopathy 9 with early respiratory failure proximal myopathy with early respiratory muscle involvement	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CYBB IFNG TLR5 TLR9	1536 3458 54106 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050858	Marshall-Smith syndrome	NFIX	4784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081140	agammaglobulinemia 8A	TCF3	6929	Homo sapiens (human)	Alliance of Genome Resources
DOID:13166	allergic bronchopulmonary aspergillosis Aliases: pulmonary aspergillus disease	CFTR HLA-DQB1 HLA-DRB1 MBL2 TLR9 TNFRSF1A	1080 3119 3123 4153 54106 7132	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	CHRNB2	1141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:2773	contact dermatitis Aliases: Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata	CD46 XRCC1	4179 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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