GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **101 - 125** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	Btk Pik3r1	12229 18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	Pgap1	241062	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090135	complex cortical dysplasia with other brain malformations 5 Aliases: CDCBM5	TUBB2A	7280	Homo sapiens (human)	Alliance of Genome Resources
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	CHD4 CYP24A1 GPX3 IL6 MAP3K1 MAPK14 MRE11 NBN XRCC5	1108 1432 1591 2878 3569 4214 4361 4683 7520	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	Sgce	20392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	F5 PDGFRA	2153 5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	Creb1 Gsk3b Nox1	114243 81646 84027	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060852	Pierson syndrome Aliases: microcoria-congenital nephrosis syndrome	LAMB2	3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070540	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Aliases: ECHS1D	ECHS1	1892	Homo sapiens (human)	Alliance of Genome Resources
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	GLMN	11146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081450	hyperimmunoglobulinemia D periodic fever syndrome Aliases: HYPER-IgD SYNDROME	MVK	4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	ILDR1	286676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC37A4	10159 2542 2590 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1073	renal hypertension	Mmp2 Mmp9 Nos3	24600 81686 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	GLI3 SHH	2737 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	ACE APOA5 APOE CBS F2 F5 F7 FOLH1 GPX3 GRIN1 HLA-A HLA-B HLA-DRB1 HNF1A IFNB1 ITGA9 KALRN KCNN4 LIPG LTA MTR MYRF NR1H3 NTRK2 PARK7 PDX1 PON1 PON2 PRKCH PROS1 PTGIS SERPING1 TBXAS1 THBD TNF TOMM40 TYMS	10062 10452 11315 116519 1636 2147 2153 2155 2346 2878 2902 3105 3106 3123 3456 348 3651 3680 3783 4049 4548 4915 5444 5445 5583 5627 5740 6916 6927 7056 710 7124 7298 745 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:4677	keratitis	IL6 TLR4	3569 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	Col11a1 Col11a2	12814 12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090102	autosomal dominant isolated macrothrombocytopenia 1 Aliases: MACTHC1	TUBB1	81027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060985	preaxial polydactyly type IV Aliases: crossed polydactyly type 1	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources

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