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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 **3226 - 3250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	CBL F11 IGFALS KAT6B KRAS PLAT PLG PTPN11 RAF1 SERPINE1 SOS1	2160 23522 3483 3845 5054 5327 5340 5781 5894 6654 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CBR1	854768	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CBR1	854768	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080074	neural tube defect	CBS CRIPTO FUZ LRP6 MTHFD1 MTHFD1L TBXT	25902 4040 4522 6862 6997 80199 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	CBX2 DLC1 STARD13	10395 84733 90627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	CC2D1A CC2D2A DNAI4 INVS PKD2 PRKG1 RPGRIP1L SPRY2 TEKT1 TMEM67 TTC8	10253 123016 23322 27130 5311 54862 5592 57545 79819 83659 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081179	autosomal recessive intellectual developmental disorder 3	CC2D1A	54862	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	CC2D2A KIF14 RPGRIP1L TBC1D32 TMEM231 TMEM67 TXNDC15	221322 23322 57545 79583 79770 91147 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111004	Joubert syndrome 9 Aliases: JBTS9	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:2560	morphine dependence	CCAP-R Dop2R Fas2 GluRIA	2768688 31364 33007 38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	CCAP-R Egfr GlyT Mvl Sb Tace Tsf2 cora	2768688 37205 37455 37772 39435 41958 42490 43558	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	CCAP-R Hsp110 Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Mvl Octbeta1R Octbeta2R Orct2 Orct Sema2a Sema2b nAChRalpha6	246538 2768688 31926 34304 34978 34979 34981 36846 36868 37104 39557 41549 42490 42652 42890 42891	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CCAP-R InR Pdfr	2768688 31234 42549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	CCAP-R Sod3 sfl	2768688 36232 38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060572	Ritscher-Schinzel syndrome 2	CCDC22	28952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	CCDC39 DNAAF3 DNAH11 DNAH5 DRC1 MBL2 ODAD2 ODAD3 SLIT2	115948 1767 339829 352909 4153 55130 8701 92749 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110598	primary ciliary dyskinesia 14 Aliases: CILD14 primary ciliary dyskinesia 14 with or without situs inversus	CCDC39	339829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110569	autosomal dominant nonsyndromic deafness 44 Aliases: DFNA44 autosomal dominant deafness 44	CCDC50	152137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050986	spinocerebellar ataxia type 40	CCDC88C	440193	Homo sapiens (human)	Alliance of Genome Resources

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