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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 **10376 - 10400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABCB1 ADIPOQ ALOX12 ALPI APOA4 BPI CD40 CHRNA7 CLDN1 COL6A3 DUOX2 F13A1 F2 FCGR2A FCGR3A FGA FGF7 GC GPX1 HFE HLA-DPA1 HLA-DQB1 ICAM1 IFNG IL10 IL21R IL23R IL6 KDR LRRK2 MADCAM1 MBL2 MKI67 NOD2 OCLN PBRM1 PGF PIKFYVE PLAUR PON1 PON3 PRF1 PTGS2 SELL SLC11A1 SLC22A5 STAT3 THBD TNF TNFRSF1A TNFRSF1B UGT1A1 VEGFA VIPR1	100506658 1139 120892 1293 149233 200576 2147 2162 2212 2214 2243 2252 239 248 2638 2876 3077 3113 3119 337 3383 3458 3569 3586 3791 4153 4288 50506 50615 5228 5243 5329 5444 5446 54658 55193 5551 5743 6402 64127 6556 6584 671 6774 7056 7124 7132 7133 7422 7433 8174 9076 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ATN1 RERE	1822 473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080082	nonsyndromic congenital nail disorder 4 Aliases: HYPONYCHIA CONGENITA anonychia congenita	RSPO4	343637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Aliases: IMD73B	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	KRAS NRAS	3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	ARHGEF2	9181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	CLPTM1L	81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112166	autosomal dominant nonsyndromic deafness 75 Aliases: DFNA75	TRRAP	8295	Homo sapiens (human)	Alliance of Genome Resources
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	LDLR	3949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070409	autosomal recessive spinocerebellar ataxia 28 Aliases: SCAR28	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:1681	heart septal defect Aliases: Cardiac septal defects Congenital septal defect of heart septal defect	BMPR2 CRELD1 TBX2	659 6909 78987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050587	trichotillomania	SLITRK1	114798	Homo sapiens (human)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	AQP4 ATP6V0E1 MYO15A PNPLA6 PNPLA7 RPL26 SLC7A14	10908 361 375775 51168 57709 6154 8992	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	BRINP3 CD40LG CD80 DSPP IL15 IL16 IL17A IL19 IL21 IL24 IL6 IL7	11009 1834 29949 339479 3569 3574 3600 3603 3605 59067 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112162	autosomal recessive nonsyndromic deafness 116 Aliases: DFNB116	CLDN9	9080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	DAAM2 LAMA5	23500 3911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
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	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	CD96	10225	Homo sapiens (human)	Alliance of Genome Resources
DOID:9159	gas gangrene Aliases: Gas bacillus infection	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111968	immunodeficiency 41 Aliases: CD25 deficiency IL2RA deficiency IMD41 immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency due to CD25 deficiency interleukin-2 receptor alpha chain deficiency	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources

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