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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 **11351 - 11375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111556	steatocystoma multiplex Aliases: multiple sebaceous cysts sebocystomatosis	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	LanA	38723	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	LanA	38723	Drosophila melanogaster (fruit fly)	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:0081210	autosomal recessive intellectual developmental disorder 46	sfl	38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	gpc3	387365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	gpc3	387365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	gpc3	387365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	GluRIA	38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:670	amphetamine abuse	GluRIA	38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081235	autosomal recessive intellectual developmental disorder 76	GluRIA	38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	GluRIA	38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	sgl	38760	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110573	autosomal dominant nonsyndromic deafness 4A Aliases: DFNA4A autosomal dominant deafness 4A	CEACAM16 MYH14	388551 79784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110574	autosomal dominant nonsyndromic deafness 4B Aliases: DFNA4B autosomal dominant deafness 4B	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060546	Hermansky-Pudlak syndrome 8	BLOC1S3	388552	Homo sapiens (human)	Alliance of Genome Resources
DOID:8689	anorexia nervosa	Octbeta1R Octbeta2R Octbeta3R	3885573 41549 42652	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	Dpm3	3885575	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	CG34057 Snmp2	3885645 38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	CG34057	3885645	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	SLC6A17	388662	Homo sapiens (human)	Alliance of Genome Resources
DOID:289	endometriosis	Snmp2 btl htl	38868 39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	Calr Snmp2	38868 41166	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	Dop1R2 Octbeta2R Snmp1 Snmp2	38868 41549 42514 43484	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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