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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 **3526 - 3550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	CG7766 Duox Fas2 Glut1 Nrg Octbeta2R Pal1 Plod Sod3 Spn28Dc futsch kdn	31364 31579 31792 31839 33477 34091 36033 36232 38109 39265 41549 5740544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	CG7766 Fur2 sli	31839 32604 36746	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	CG7766 Glut1 Glyp Glys Gyg Pfk	31839 33386 36060 37419 38109 41823	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	CG7766	31839	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	CG7766	31839	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	CG8475	34114	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	CG9109	33844	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	CG9550 Tsp trol	33913 33941 45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CG9550	33913	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CGA ESR1 FLT1 INHA LHCGR PDGFA PDGFB PDGFRA PDGFRB PRMT5	10419 1081 2099 2321 3623 3973 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070070	autosomal dominant intellectual developmental disorder 40 Aliases: MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40	CHAMP1	283489	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	CHAT CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG MYO9A SYT1 SYT2	1103 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 127833 4649 6857 8973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	Alliance of Genome Resources
DOID:9955	hypoplastic left heart syndrome	CHCHD3 CHCHD6 FOXP1 MYH7 SAP130	27086 4625 54927 79595 84303	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080909	castration-resistant prostate carcinoma	CHD1 GCY1 YPR1	851974 854287 856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	CHD1	856911	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	CHD2 FMR1 ROBO1 ROBO2 ROBO3 SLC25A10 SLC6A1 VARS1	1106 1468 2332 6091 6092 64221 6529 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD2	1106	Homo sapiens (human)	Alliance of Genome Resources
DOID:4905	pancreatic carcinoma Aliases: Exocrine pancreas carcinoma carcinoma of pancreas	CHD3 HNRNPA2B1 KDR KRAS MYC RAF1	1107 3181 3791 3845 4609 5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	CHD4 CXCR4 CYP24A1 GPX3 IL6 MAP3K1 MAPK14 MRE11 NBN XRCC5	1108 1432 1591 2878 3569 4214 4361 4683 7520 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	CHD4 DTNA PRDM16 SLC39A8 YWHAE	1108 1837 63976 64116 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	CHD4	1108	Homo sapiens (human)	Alliance of Genome Resources

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