GlyCosmos Portal

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

Displaying entries **1076 - 1100** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080716	infantile liver failure syndrome	NBAS RINT1	51594 60561	Homo sapiens (human)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ABCB11 ABCB1 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ACE ADAMTS13 ADH5 ALB APOC3 APOE BMAL1 CAT CD14 CD44 CFTR CLOCK COL1A1 CP CYP3A5 CYP7A1 ENG G6PD HP HPR IL1A IL4 LAMP2 MMP2 NOS3 PDGFB PRKAA1 PYGM SLC10A1 SLCO1A2 SLCO1B1 SLCO1B3 TIMP1 TJP1 UTP4 VPS33B	10257 10599 1080 11093 1244 1277 128 1356 1577 1581 1636 2022 213 2539 26276 28234 3240 3250 345 348 3552 3565 3920 406 4313 4846 5155 5243 5244 5562 5837 64240 64241 6554 6579 7076 7082 847 84916 8647 8714 929 9575 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:1003	pelvic inflammatory disease Aliases: PID	IL4 PTX3	3565 5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:3659	sialuria	GNE SLC17A5	10020 26503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112338	spermatogenic failure 57 Aliases: SPGF57	PNLDC1	154197	Homo sapiens (human)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	MCEE MMAB MMUT	326625 4594 84693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	SMARCA2 SMARCA4	6595 6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111998	immunodeficiency 66 Aliases: IMD66	MRTFA	57591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	POLH	5429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050155	sensory system disease	TBL1X TBL1Y	6907 90665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	COL1A1 COL1A2 SMPD3	1277 1278 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ANK1 EPB42 SLC4A1 SPTA1 SPTB	2038 286 6521 6708 6710	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 ATF6 BDNF CD44 CX3CL1 EIF2A IL16 MIF NGF NTF3 NTRK2 NTRK3 PARG PARP1 SLC6A4	142 22926 230 3603 4282 468 4803 4908 4915 4916 627 6376 6532 83939 8505 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	APOA1 F5	2153 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090050	dystonia 27	COL6A3	1293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	EFL1 EIF6 RPL3 SERPINI2 SRP54	3692 5276 6122 6729 79631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080286	spinocerebellar ataxia 44	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080521	lung non-squamous non-small cell carcinoma Aliases: non- squamous NSCLC	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	GATAD2B	57459	Homo sapiens (human)	Alliance of Genome Resources

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