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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 **4526 - 4550** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	ABCB1 ABCG2 CAT DRD2 EPHA4 IGF1R IL10 SLC18A2	1813 2043 3480 3586 5243 6571 847 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	AGER HLA-A HLA-B HLA-DRB1 IL2 MMP3 MMP9	177 3105 3106 3123 3558 4314 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	TOR1AIP1	26092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	SOX2	6657	Homo sapiens (human)	Alliance of Genome Resources
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	IL13 IL17A LGALS1 NR3C1 STAT6	2908 3596 3605 3956 6778	Homo sapiens (human)	Alliance of Genome Resources
DOID:11263	chlamydia Aliases: Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease	TGFB1	7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	GBA2	57704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111096	Fanconi anemia complementation group O Aliases: FANCO	RAD51C	5889	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110424	dilated cardiomyopathy 1CC Aliases: CMD1CC	NEXN	91624	Homo sapiens (human)	Alliance of Genome Resources
DOID:10952	nephritis	ACE AGTR1 CCL2 CXCR2 CYP2J2 EDN1 ICAM1 IFNG IL4 ITGA4 ITGAL ITGB2 NOS3 PARP1 PTK2 SERPINB7 SMAD6 SNRPD1	142 1573 1636 185 1906 3383 3458 3565 3579 3676 3683 3689 4091 4846 5747 6347 6632 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070007	Seckel syndrome 1 Aliases: SCKL1 microcephalic primordial dwarfism I	ATR	545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110977	brachydactyly type A1C Aliases: BDA1C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	FOXH1	8928	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	AR ATP7A ATP7B DPP6 HEXB KIF5B VAPB	1804 3074 367 3799 538 540 9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110465	autosomal recessive nonsyndromic deafness 104 Aliases: DFNB104 autosomal recessive deafness 104	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources
DOID:10113	trypanosomiasis	A2M BCHE IL4	2 3565 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080696	Winchester syndrome	MMP14	4323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:9402	epididymitis	IL6 TNF	3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:2615	papilloma Aliases: papillomatosis	PLA2G4A PTGES	5321 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:8536	herpes zoster Aliases: Shingles herpes zona	F2 IL10 IL2 IL4 TNF	2147 3558 3565 3586 7124	Homo sapiens (human)	Alliance of Genome Resources

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