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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 **5251 - 5275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	DBH HSPA5 SLC6A2 SLC6A3	1621 3309 6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	AR BAD CASP6 CFTR CLU ESR1 FADD FGF7 FGF8 IGF1R IL13 IL3 IL5 KDR MYC NME2 PDGFB PDGFD PTGS2 RELA SRD5A1	1080 1191 2099 2252 2253 3480 3562 3567 3596 367 3791 4609 4831 5155 572 5743 5970 6715 80310 839 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6PD	2539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080988	pretibial dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080131	mitochondrial DNA depletion syndrome 13 Aliases: FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type	FBXL4	26235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	ABL1 AGAP2 ARID2 ARPC1B ATM AZGP1 BIRC2 BRINP2 BST2 CALR CBX2 CCL2 CCR2 CDC73 CDH1 CHAF1B CLPTM1L CTNND1 CYP1A1 CYP24A1 CYP2E1 DAXX DDR1 DDR2 DOCK6 EGFR ERBB2 ERBB4 EZH2 FAT1 FGFR3 FGFR4 FLT3 FOSL2 GAPDH GSK3B H2AX HP IL10 IL13RA2 IL2 IL6 JUN JUNB KMT2D MET PLAU PLCG1 PRDX2 PTEN PTGIS PTPN13 RELA SERPINE1 SKP2 SLC7A5 TERT TET2 TNF TP53 TTR WNT11	10095 116986 1500 1543 1571 1591 1616 1956 196528 2064 2066 2146 2195 2261 2264 2322 2355 25 2597 2932 3014 3240 329 3558 3569 3586 3598 3725 3726 4233 472 4921 5054 5328 5335 54790 563 5728 5740 57572 57795 5783 5970 6347 6502 684 7001 7015 7124 7157 7276 729230 7481 780 79577 8085 81037 811 8140 8208 84733 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:13922	eosinophilic esophagitis	CD40LG CYP2C19 PECAM1 TGFB1	1557 5175 7040 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 LRIG2	60495 9860	Homo sapiens (human)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	AGXT GRHPR HOGA1	112817 189 9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	UQCRC2	7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	HLA-DQB1 HLA-DRB1 IL4 TLR2 TLR4	3119 3123 3565 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111247	hypertension and brachydactyly syndrome Aliases: Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension	PDE3A	5139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	NOS1 PPARG	4842 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:11240	appendiceal neoplasm Aliases: appendix neoplasm neoplasm of appendix	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:10533	viral pneumonia	CCL11 TLR9	54106 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	BMP4 IL4R PTGS2 SLC7A5 TNF	3566 5743 652 7124 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	MLLT10	8028	Homo sapiens (human)	Alliance of Genome Resources
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	ACE IFNL1	1636 282618	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	DMP1	1758	Homo sapiens (human)	Alliance of Genome Resources

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