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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 **15251 - 15275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0050570	congenital disorder of glycosylation type I	ALG12 ALG1 ALG1L2 ALG5 ALG6 ALG8 ALG9 DOLK DPM1 DPM3 MPI PMM1 PMM2 RFT1 SRD5A3	22845 29880 29929 4351 5372 5373 54344 56052 644974 79053 79087 79644 79796 8813 91869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	855679	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	440138	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10B KCNH2 KCNH6	144245 3757 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B DYNC2H1 KLC2 LRP5 MTO1 PPIP5K2 USH2A WFS1	144245 23262 25821 4041 64837 7399 7466 79659 84920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1	852407	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG3 SEC53	850499 852196 852407	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG1L2 ALG3 ATP6AP2 B4GALT1 NUS1 PMM2	10159 10195 116150 2683 5373 56052 644974	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 ATF6 BDNF CD44 CX3CL1 EIF2A IL16 MIF NGF NTF3 NTRK2 NTRK3 PARG PARP1 SLC6A4	142 22926 230 3603 4282 468 4803 4908 4915 4916 627 6376 6532 83939 8505 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)	Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB	229	Homo sapiens (human)	Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB COL1A1 H2AX HSPA4 IL10 KMT5C MAP2K3 MET TUT4	1277 229 23318 3014 3308 3586 4233 5606 84787	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH5A1	7915	Homo sapiens (human)	Alliance of Genome Resources
DOID:14018	alcoholic liver cirrhosis Aliases: Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis	ALDH2 CYP2E1 DDR1 DDR2 GABRG2 IL18BP LEP MMP13 NR1D1 PLAU SERPINE1 SERPINF1 SOD2 TG TLR9	10068 1571 217 2566 3952 4322 4921 5054 5176 5328 54106 6648 7038 780 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ALDH2 CPOX CYP2E1 DPYD FAS FASLG GLUL HFE HLA-DPB1 KDSR KRT18 MBL2 MDM2 PRKCSH SERPINA1 THBD TNF	1371 1571 1806 217 2531 2752 3077 3115 355 356 3875 4153 4193 5265 5589 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ALDH1A2 CHRD CRKL DICER1 DOCK1 DVL1 ESS2 FGF8 HOXA3 KAT6A NDST1 PLXND1 TGFBR2 UFD1 VEGFA	1399 1793 1855 2253 23129 23405 3200 3340 7048 7353 7422 7994 8220 8646 8854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:1283	enterocele Aliases: vaginal enterocele	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources

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