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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 **51 - 75** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	cpd-2 egl-21	177940 181684	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	EMD HOOK1 LEMD2 LEMD3 LMNA LMNB1 LMNB2 SYNE1 SYNE2	2010 221496 23224 23345 23592 4000 4001 51361 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	Tuba8 Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 53857 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	NPHP3 RPGRIP1L TMEM67 TTC21A	199223 23322 27031 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	galnt3	100488466	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2355	anemia Aliases: anaemia	ace pon2	100144634 448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	Adra1a Adra1d Adrb3 Akt2 Amh Atp5f1b Comt Cyp1a1 Fst Hsd17b7 Mmp2 Ngfr Pecam1 Serpine1 Th Vegfa	171374 24267 24296 24373 24596 24617 25085 25233 25378 25645 29412 29413 29540 29583 81686 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1532	pleural disease Aliases: disorder of pleura non-neoplastic pleural disease	Il1rn	16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112184	thyroid dyshormonogenesis 5 Aliases: TDH5 genetic defect in thyroid hormonogenesis 5	duoxa1	780018	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	ABCG2 EZH2 JAK3 MRTFA SNCB	2146 3718 57591 6620 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	C3 Cfb Cfp F2 F8 Fcgr2b Fcgr3 H2-Aa Hc Ifng Il10 Plat Tfpi Tgfb1	12266 14061 14069 14130 14131 14960 14962 15139 15978 16153 18636 18791 21788 21803	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	HTR2A	3356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	Fbn1	14118	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:12241	beta thalassemia	Apob Col1a1 Hfe Hp Igfbp3 Il1a Pon1 Tnf	24464 24484 24493 24835 29199 29393 54225 84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	Prg2	58826	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	aldo-1	176788	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	Plat	25692	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	Triobp	110253	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	Npc2a	33374	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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