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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 **2001 - 2025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	pat-3	175504	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080413	developmental and epileptic encephalopathy 18 Aliases: DEE18 early infantile epileptic encephalopathy 18	SZT2	23334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	g6pc3	790919	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111302	generalized epilepsy with febrile seizures plus 1 Aliases: GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	FGR HCK SF3B2 SRC	10992 2268 3055 6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111370	apolipoprotein C-III deficiency Aliases: HALP2 hyperalphalipoproteinemia 2	APOC3	345	Homo sapiens (human)	Alliance of Genome Resources
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	Il1rl1 Itgb3 Mmp9 Pdpn Pecam1 Sftpa1 Sftpb Sftpd Tnf	192155 24773 24835 25350 25556 29302 29583 54320 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	Lrp1	16971	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112232	lissencephaly 3 Aliases: LIS3	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	Hp	24464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	Il2	116562	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:936	brain disease Aliases: encephalopathy	CPT2 Eno Nup214 SerT Stim	32556 33351 37895 38355 46091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	slc26a5	322846	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070231	benign recurrent intrahepatic cholestasis 1 Aliases: BRIC type 1 BRIC1 Summerskill syndrome	Atp8b1	291555	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	ccn3.L cxcr4.L cxcr4.S efnb1.L ephb1.S rgn.L ttr.L	100192360 373659 373662 380373 394292 397787 399288	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:255	hemangioma	MMP2 SLC2A1	4313 6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	Clcnka Clcnkb Slc12a3 Wnk4	12733 20497 56365 69847	Mus musculus (house mouse)	Alliance of Genome Resources
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:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	Pdgfra	25267	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081141	agammaglobulinemia 9	zipt-7.2	181640	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9065	leishmaniasis	CCR5 IFNG IL4 SLC6A4	1234 3458 3565 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	ABCA4 ELOVL4	24 6785	Homo sapiens (human)	Alliance of Genome Resources

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