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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 **3926 - 3950** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111837	congenital nongoitrous hypothyroidism 8 Aliases: CHNG8	TBL1X	6907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050967	spinocerebellar ataxia type 17	TBP	6908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070345	vertebral anomalies and variable endocrine and T-cell dysfunction Aliases: heterozygotes for TBX2 variants	TBX2	6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112363	spondylocostal dysostosis 5 Aliases: SCDO5	TBX6	6911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	TBX3	6926	Homo sapiens (human)	Alliance of Genome Resources
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111366	familial hepatic adenoma Aliases: familial liver cell adenomas	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111102	maturity-onset diabetes of the young type 3 Aliases: MODY type 3 MODY3	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081140	agammaglobulinemia 8A	TCF3	6929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081143	agammaglobulinemia 8B	TCF3	6929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110857	posterior polymorphous corneal dystrophy 3 Aliases: Ppcd3	ZEB1	6935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	NDNF TCF12	6938 79625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	TCF20	6942	Homo sapiens (human)	Alliance of Genome Resources
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	EFTUD2 NOLC1 POLR1B TCOF1	6949 84172 9221 9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080789	Treacher Collins syndrome 1	TCOF1	6949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	TEAD1	7003	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110544	autosomal dominant nonsyndromic deafness 12 Aliases: DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	TEK TG	7010 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	CD40 TERT	7015 958	Homo sapiens (human)	Alliance of Genome Resources

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