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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 **7851 - 7875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	KEX2 LAC1 LAG1 YCT1	850671 853861 855483 856386	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060287	cornea plana Aliases: flat cornea	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:7736	retinal telangiectasia	KDR VEGFA	3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	KDR VEGFA	3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050904	salivary gland carcinoma	KDR PTGS1	3791 5742	Homo sapiens (human)	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	KDR PIK3CA PTPRB	3791 5290 5787	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	KDM6B	23135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	KDM6A KMT2D UTY	7403 7404 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type Aliases: MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081226	autosomal recessive intellectual developmental disorder 65	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	KCNV2	169522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	KCNT2	343450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5 Aliases: ENFL5 nocturnal frontal lobe epilepsy 5	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080439	developmental and epileptic encephalopathy 14 Aliases: DEE14 early infantile epileptic encephalopathy 14	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080237	autosomal dominant intellectual developmental disorder 46 Aliases: autosomal dominant mental retardation 46	KCNQ5	56479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080462	developmental and epileptic encephalopathy 7 Aliases: KCNQ2-related epileptic encephalopathy KCNQ2-related neonatal epileptic encephalopathy early infantile epileptic encephalopathy 7	KCNQ2	3785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1	3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111577	dehydrated hereditary stomatocytosis 2 Aliases: desiccytosis Gardos xerocytosis Gardos	KCNN4	3783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	KCNN4 MYC PTPRB STAT3 TP53	3783 4609 5787 6774 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3 Aliases: generalized epilepsy and paroxysmal dyskinesia	KCNMA1 KCNU1	157855 3778	Homo sapiens (human)	Alliance of Genome Resources

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