GlyCosmos Portal

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

Displaying entries **5576 - 5600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:8463	corneal ulcer	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	HADHA HADHB	3030 3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110873	holoprosencephaly 9 Aliases: HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features	Gli2	14633	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:1724	duodenal ulcer Aliases: Curling Ulcer Curling's ulcers Stress Ulcer	Cftr Il27 Slc11a2 Stat3 Tfrc Vegfa	12638 18174 20848 22042 22339 246779	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8158	complement component 5 deficiency Aliases: C5 deficiency	C5	727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	Chrnb1	11443	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080530	granular corneal dystrophy 1 Aliases: corneal dystrophy, Groenouw type I	YLR001C	850687	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	SH2B1	25970	Homo sapiens (human)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	nog	493191	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	Bscl2	361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110605	primary ciliary dyskinesia 7 Aliases: CILD7 primary ciliary dyskinesia 7 with or without situs inversus	DNAH11	8701	Homo sapiens (human)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	Ids	15931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11123	Henoch-Schoenlein purpura Aliases: Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune	ace pon1	447803 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	Gabrg2 Scn10a Scn11a Scn1a Scn1b Scn2a Scn3a Scn4a Scn5a Scn8a Scn9a	24766 25665 25722 29571 29686 29701 29709 29710 497770 78956 81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12337	varicocele Aliases: Scrotal varices	Fas Hspd1 Il1a	24493 246097 63868	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	OGG1 PTEN STAT1 STAT3 TSC2	4968 5728 6772 6774 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	Fgf8	14179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14227	azoospermia	ndst1a ndst1b ndst2a ndst2b ndst3 ptprfb	100317129 100329944 570459 793524 798226 799867	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	Hsd11b1	25116	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	Vegfc	22341	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070043	autosomal dominant intellectual developmental disorder 13 Aliases: MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects	Dync1h1	13424	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11396	pulmonary edema	ADRB2 AGT ALOX5 CCL2 IL13 NOS2 NOS3 SFTPA1 SGMS1 TNF VEGFA	154 183 240 259230 3596 4843 4846 6347 653509 7124 7422	Homo sapiens (human)	Alliance of Genome Resources

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