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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 **6101 - 6125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112018	non-syndromic X-linked intellectual disability 104 Aliases: MRX104 X-linked mental retardation 104	FRMPD4	9758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	GABBR2	9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	acn-1 fbn-1 ina-1 pat-3 pxn-1 pxn-2 srp-3 zmp-3	175504 176076 176296 178672 178748 180780 181288 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110699	hypotrichosis 2 Aliases: Htss1 Hypt2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:326	ischemia	asic1a asic1b asic1c asic2 asic4a asic4b	407667 407668 407669 407670 407672 791696	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	GPX1 GPX2 PBS2 RNY1	852546 853313 853842 855980	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9631	Pelger-Huet anomaly	LBR	3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod	39265	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	fgfr1a fgfr2	30705 352940	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	Gabrb1	14400	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2596	larynx cancer	Cxcr4 Gpx1 Vegfa	12767 14775 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	ECM14	856533	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GALT	2592	Homo sapiens (human)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	Col11a2 Col2a1 Flnb Gdf6 Mthfd1 Nectin1 Ror2 Sdc2 Specc1l	108156 12815 12824 15529 242316 26564 286940 58235 74392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	p2rx2	387297	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111779	X-linked panhypopituitarism Aliases: PHPX pituitary dwarfism IV	Sox1	20664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	CXCR4 DLL4 NOTCH4	4855 54567 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	tag-196	179240	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	BMP5	653	Homo sapiens (human)	Alliance of Genome Resources

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