GlyCosmos Portal

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

Displaying entries **9476 - 9500** of **15957** in total

« First

‹ Prev

…

376

377

378

379

380

381

382

383

384

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112186	thyroid dyshormonogenesis 2A Aliases: TDH2A genetic defect in thyroid hormonogenesis 2A iodide peroxidase deficiency thyroid peroxidase deficiency	Tpo	22018	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	Gls	14660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2272	vulvovaginal candidiasis Aliases: Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis	Mbl2	17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112158	De Sanctis-Cacchione syndrome Aliases: xeroderma pigmentosum with neurologic manifestation	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	Ehmt1	77683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	COL2A1 ENPP1 HLA-B IL6 TNF	1280 3106 3569 5167 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	KIN1 KIN2	850785 851700	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0090050	dystonia 27	Col6a3	12835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112370	Coffin-Siris syndrome 12 Aliases: CSS12	Bicra	243842	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	Epb41l1	59317	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 InR Jra dpp sca	31926 33432 34978 34979 34981 36057 36411 36868 37104 42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2m Acat1 Ace Apob Cfi Coq2 Coq8a Cpb2 Ednra Epo Igfals Il1rn Il4 Kirrel1 Nos1 Nphs1 Ppargc1a Ptgs2 Scnn1a Scnn1b Sod2 Tfpi Tnfrsf11b	113936 24153 24310 24326 24335 24598 24767 24787 25014 25122 25341 287287 29436 29527 310695 360887 498332 54225 60582 64563 79126 79438 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080828	VEXAS syndrome Aliases: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	Camk2a	25400	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	Tnrc6b	213988	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	Ptpa	110854	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	Smarcd1	83797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	MITF TGFB1	4286 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	Slc6a17	613226	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081378	amyotrophic lateral sclerosis type 24	NEK1 NEK9	4750 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	Csf3 F2 Il1rl1 Itgb3 Mbl2 Mmp9 Mpo Pdpn Pecam1 Sftpb Sftpd Tlr2 Tlr6 Tnf Trem1	12985 14061 14726 16416 17082 17195 17395 17523 18613 20388 20390 21899 21926 24088 58217	Mus musculus (house mouse)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements