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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 **9801 - 9825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111098	Fanconi anemia complementation group B Aliases: FACB FANCB Fanconi pancytopenia type 2	FANCB	2187	Homo sapiens (human)	Alliance of Genome Resources
DOID:4896	bile duct adenocarcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	DVL3	1857	Homo sapiens (human)	Alliance of Genome Resources
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	CAT CCR5 CD163 COL1A1 IL10 IL17A LTA MMP2 SLC11A1 SOD1 TLR2 TLR4 TLR9 TNF	1234 1277 3586 3605 4049 4313 54106 6556 6647 7097 7099 7124 847 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	LITAF	9516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111433	optic atrophy 3 Aliases: ADOAC OPA3 autosomal dominant optic atrophy 3 autosomal dominant optic atrophy and cataract autosomal dominant optic atrophy type 3 optic atrophy 3 with cataract	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	ALB CTPS1 FASLG HGF IL4 IL6 MDM2 MTAP MUC1 MUC4 MUC5AC	1503 213 3082 356 3565 3569 4193 4507 4582 4585 4586	Homo sapiens (human)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	SERPINA12 SERPINA1 SERPINB1 SERPINC1 SERPINE2 SERPINI1 SERPINI2 SYVN1	145264 1992 462 5265 5270 5274 5276 84447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060587	Noonan syndrome 9 Aliases: NS9	SOS2	6655	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111997	immunodeficiency 63 Aliases: IL2RB deficiency IMD63 immunodeficiency 63 with lymphoproliferation and autoimmunity	IL2RB	3560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111995	immunodeficiency 28 Aliases: IFNGR2 deficiency IMD28 MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency immunodeficiency 28, mycobacteriosis	IFNGR2	3460	Homo sapiens (human)	Alliance of Genome Resources
DOID:7319	axonal neuropathy	AARS1 AARS2	16 57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070165	spermatogenic failure 18 Aliases: SPGF18	DNAH1	25981	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	TYRP1	7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POR REN	1583 1584 1585 1586 1589 5447 5972	Homo sapiens (human)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ADA2	51816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1 SELP THBD	2243 2266 6403 7056 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111562	overhydrated hereditary stomatocytosis Aliases: OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110989	Joubert syndrome 20 Aliases: JBTS20	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources

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