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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 **26 - 50** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	Bmp4 Creld1 Dnah11 Gata4 Glyr1	12159 13411 14463 171508 74022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	clptm1l efnb2a fgfr4	100000160 30219 436653	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP1	853830	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	drd2.L ngf.S	108709389 378584	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	NF1 VEGFA	4763 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3877	functional colonic disease	Crhr1 Crhr2	58959 64680	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	Gdf3	14562	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	Cxcr4 Plat	25692 60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	Ghr	25235	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	Iqsec2	245666	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	ACVR1 APEX1 COL4A2 ERAP1 ERAP2 GPX3 LNPEP RBP4	1284 2878 328 4012 51752 5950 64167 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:853	polymyalgia rheumatica	Crp Hfe Pecam1	25419 29199 29583	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050641	Rh deficiency syndrome	Rhag	19743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	vha-5 vha-6 vha-7	174743 177626 178219	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050723	PSAT deficiency Aliases: Phosphoserine aminotransferase deficiency	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081344	congenital myopathy 9B	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	GPI18	852289	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	GIT1	850462	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060582	Noonan syndrome 4 Aliases: NS4	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	Cftr	24255	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources

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