GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **14701 - 14725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	APOB CYP1A1 PPARD	1543 338 5467	Homo sapiens (human)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	Cad96Ca tor	35717 43026	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111553	spondyloepiphyseal dysplasia Maroteaux type Aliases: Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 SED, Maroteaux type spondyloepiphyseal dysplasia of Maroteaux	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:285	hairy cell leukemia	Gpx1 Il1rn	14775 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	Npr2	116564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	Oatp74D Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2	35105 35137 35138 35139 37420 39954 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3	192334	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	CTSA	5476	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	DMP1	1758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	Scn2a	24766	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	AMBRA1 COQ2 FAS IGF2 KLK6 SLC1A1 SLC6A6 SNCA	27235 3481 355 55626 5653 6505 6533 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:4231	histiocytoma	Klrk1	27007	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	Nrg	31792	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060796	hypomyelinating leukodystrophy 12 Aliases: HLD12	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:2297	leptospirosis Aliases: Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice	Ache Bche F2 Mbl2	11423 12038 14061 17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	Stat5b	20851	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	cacna1c	100488055	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	GIT1 STE6	850462 853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	adrb1.L crhr1.2.S ntf3.L tgfb1.L	108697308 373580 397778 399298	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:1407	anterior uveitis	C2 C3 CCL2 CCR1 CCR5 CD59 CFB CFH HLA-B IL1RN NOS2 TLR2 TLR4 TNF	1230 1234 3075 3106 3557 4843 629 6347 7097 7099 7124 717 718 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources

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