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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 **11751 - 11775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080105	microcephaly and chorioretinopathy 1	TUBGCP6	85378	Homo sapiens (human)	Alliance of Genome Resources
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	APOC2 LPL	344 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:12306	vitiligo	C4A CAT COMT CTLA4 ESR1 HGF HLA-DQA1 HLA-DQB1 HLA-DRB1 HSPA1A IFNG IL13 IL17A IL1A IL2 IL4 MBL2 NCSTN SOD2 TGFB1 TLR2 TLR4 TNF TYR	1312 1493 2099 23385 3082 3117 3119 3123 3303 3458 3552 3558 3565 3596 3605 4153 6648 7040 7097 7099 7124 720 7299 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060817	syndromic X-linked intellectual disability 34 Aliases: MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type	NONO	4841	Homo sapiens (human)	Alliance of Genome Resources
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ARPC5 CARD10 CARD9 CD8A CTLA4 CTNNBL1 FADD FCHO1 FNIP1 IFNAR1 IKZF3 IL2 IL6ST IL7R IRAK4 LIG1 MAGT1 MCM10 MCTS1 MPEG1 MYD88 OAS1 OTULIN PIK3CG PTPRC REL SLC19A1 SPPL2A STK4 SYK TET2 TLR3 TLR4 TLR5 TLR8 TNFRSF9 TPP2 ZNFX1	10092 1493 219972 22806 23149 28985 29775 3454 3558 3572 3575 3604 3978 4615 4938 51135 51311 5294 54790 55388 56259 57169 5788 5966 64170 6573 6789 6850 7098 7099 7100 7174 84061 84888 8772 90268 925 96459	Homo sapiens (human)	Alliance of Genome Resources
DOID:4186	articulation disorder Aliases: Articulation impairment Phonological disorder	CNTNAP2 FOXP2	26047 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	ADIPOQ IL17A TNF	3605 7124 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112346	hereditary spastic paraplegia 83 Aliases: SPG83 spastic paraplegia 83 autosomal recessive	HPDL	84842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111686	hereditary mixed polyposis syndrome 2 Aliases: HMPS2	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112148	Uruguay faciocardiomusculoskeletal syndrome Aliases: FCMSU	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 ATF6 BDNF CD44 CX3CL1 EIF2A IL16 MIF NGF NTF3 NTRK2 NTRK3 PARG PARP1 SLC6A4	142 22926 230 3603 4282 468 4803 4908 4915 4916 627 6376 6532 83939 8505 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111958	immunodeficiency 11B Aliases: IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:10685	separation anxiety disorder	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	ANXA1 AQP5 CCR5 FAR2 IL10 IL1RN IL6 MUC16 MUC1 MUC5AC PLTP SOD1 TLR2 TLR4	1234 301 3557 3569 3586 362 4582 4586 5360 55711 6647 7097 7099 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	ABCC1	4363	Homo sapiens (human)	Alliance of Genome Resources
DOID:8337	appendicitis Aliases: acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess	F2 PLAU	2147 5328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060668	anencephaly	EFNA5 NUAK2 RPGRIP1L	1946 23322 81788	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP APOA1 CCL5 CCR5 CD274 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNA2 IFNAR1 IFNG IFNL1 IL10 IL12A IL13 IL2 IL4 IL6 IRF5 KIR2DS1 KIR3DL1 KIR3DS1 KLRC1 KLRK1 LDLR MBL2 MPL MYC NCR1 NCR3 PDCD1 PTX3 SAMHD1 STAT1 STAT2 TERT TLR3 TLR9 TREM1	1234 174 2147 22914 259197 25939 282618 29126 3117 3119 3123 3135 335 3440 3454 3458 3558 3565 3569 3586 3592 3596 3663 3806 3811 3813 3821 3949 4153 4352 4609 5133 54106 54210 5806 6352 6772 6773 7015 7098 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	SYNE2	23224	Homo sapiens (human)	Alliance of Genome Resources
DOID:13934	facial paralysis Aliases: Facial Palsy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	MAG	4099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	CXCR4	7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources

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