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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **401 - 425** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0050473	Alstrom syndrome	ALMS1	7840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALOX12B	242	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5 TACR1	240 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080326	familial hypertrophic cardiomyopathy	ALPK3 CORIN FHOD3 MYBPC3 MYL9	10398 10699 4607 57538 80206	Homo sapiens (human)	Alliance of Genome Resources
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: HOPS HPPI phosphoethanolaminuria	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ALX4 BBS9 FGFR2 FGFR3 FLNA NOG TCF12 TWIST1	2261 2263 2316 27241 60529 6938 7291 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	ALX4 EGFR	1956 60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081046	frontonasal dysplasia 2	ALX4	60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	ALX4	60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	AMACR APEX1 BRCA1 CASP9 CDC25A CDH13 CHEK2 CXCR2 CYP1A1 CYP2C9 ERBB2 FAS FASLG FGFR2 FGFR3 HRAS HSPA1A IL1RN IL2 KDR KRAS MAP2K4 MGMT MMP1 MRE11 MSH2 MTR MUC5B MYC NAT2 PLAU PLK1 PTEN PTGS2 RB1 RUNX3 SERPINE1 SLC11A1 TERT TGFBR1 TIMP3 TLR2 TMEFF2 TNFRSF10A WIF1 XRCC1	10 1012 11197 11200 1543 1559 2064 2261 2263 23600 23671 3265 328 3303 355 3557 3558 356 3579 3791 3845 4255 4312 4361 4436 4548 4609 5054 5328 5347 5728 5743 5925 6416 6556 672 7015 7046 7078 7097 727897 7515 842 864 8797 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AMBN	258	Homo sapiens (human)	Alliance of Genome Resources
DOID:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	AMBP LEP LTA MBL2 MYLK PLAU SFTPB SFTPC TNF TNFRSF1B	259 3952 4049 4153 4638 5328 6439 6440 7124 7133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH HSD17B3	268 3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	AMN SLC19A2	10560 81693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060278	pontocerebellar hypoplasia type 9	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GLDC	2731 275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0061001	glycine encephalopathy 2 Aliases: GCE2	AMT	275	Homo sapiens (human)	Alliance of Genome Resources
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ANAPC1 RECQL4	64682 9401	Homo sapiens (human)	Alliance of Genome Resources

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