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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 **2376 - 2400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070228	intrahepatic cholestasis of pregnancy 1 Aliases: ICP1 pregnancy related cholestasis 1	Atp8b1	291555	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	ABCB1 APOC3 BMP7 BRCA2 CD44 CDKN1B CTNNB1 CXCR2 ERBB2 FLT1 FZD7 GPC3 HIF1A IGF1R IGF2R JUP KDM4D KIT LIN28A MYC PAK1 PCNA PTGS2 REST SERPINF1 SIX1 SLC2A1 STAT1 STAT3 TERT TOP2A VEGFC WIF1	1027 11197 1499 2064 2321 2719 3091 345 3480 3482 3579 3728 3815 4609 5058 5111 5176 5243 55693 5743 5978 6495 6513 655 675 6772 6774 7015 7153 7424 79727 8324 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	Ace Dop1R1 Parp1 Sin3A Tre1 VAChT	140439 3355109 36382 41625 41726 42795	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110970	brachydactyly type C Aliases: BDC	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H Aliases: LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy	tn	37190	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	IFNG TLR2 TLR4	3458 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060903	thrombosis	Ace2 C5ar1 Cd40lg Fcgr2a Fcgr2al1 Fcgr2b Fgb Hrg Hrgl1 Mmp9 P2ry12 Proc Serpine1	113959 116591 171016 24366 24617 25268 289211 302668 498276 64803 681544 81687 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050934	ovarian clear cell carcinoma Aliases: clear-cell ovarian carcinoma	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	ESR1 MLH1 PHB1 PTEN	2099 4292 5245 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	Erbb3	29496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A	2760	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	TP53BP2	7159	Homo sapiens (human)	Alliance of Genome Resources
DOID:11758	iron deficiency anemia	pon1	447803	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111111	maturity-onset diabetes of the young type 14 Aliases: MODY14	APPL1	26060	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	App	11820	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	Fshr Nup107	103468 14309	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	Aco2	79250	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	Arid1a Kras	16653 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	Lrp4	228357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6420	pulmonary valve stenosis	CDC25	851019	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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