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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 **4801 - 4825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:769	neuroblastoma	ALK ARID1A CD55 CHAF1A IGF1R KIF1B LLGL1 LLGL2 LTK NME1 NODAL NSD1 NTRK1 PECAM1 SCNN1A SNRPE	10036 1604 23095 238 3480 3993 3996 4058 4830 4838 4914 5175 6337 64324 6635 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3	1280 1297 1298 1299 1301 1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	HSD17B10	3028	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112205	developmental and epileptic encephalopathy 69 Aliases: DEE69 early infantile epileptic encephalopathy 69	CACNA1E	777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	PRICKLE1 ROR2	144165 4920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081101	nonautoimmune hyperthyroidism Aliases: Congenital nonautoimmune hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GCSH GLDC SLC6A9	2653 2731 275 6536	Homo sapiens (human)	Alliance of Genome Resources
DOID:3650	lactic acidosis	DLAT PYGL	1737 5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110076	arrhythmogenic right ventricular dysplasia 8 Aliases: ARVC8 ARVD8 arrhythmogenic right ventricular cardiomyopathy 8 familial arrhythmogenic right ventricular dysplasia 8	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1	3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:3627	aortic aneurysm Aliases: ruptured aortic aneurysm	AOC3 ATP7A EFEMP2 ELN FBN1 HDAC4 PTGER4 SERPINE1 SPP1	2006 2200 30008 5054 538 5734 6696 8639 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	ESR1 MLH1 PHB1 PTEN	2099 4292 5245 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	EDA	1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:11429	endometriosis of pelvic peritoneum	CD68	968	Homo sapiens (human)	Alliance of Genome Resources
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	CES1 SMAD4	1066 4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	SCN3B	55800	Homo sapiens (human)	Alliance of Genome Resources
DOID:419	scleroderma Aliases: dermatosclerosis	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADD3 ADIPOQ CD14 DLK1 GGT1 GLI2 ICAM1 PTEN SHH SPINT1 SPINT2 SPP1 TGFB1	10653 120 2678 2736 3383 5728 6469 6692 6696 7040 8788 929 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110566	autosomal dominant nonsyndromic deafness 40 Aliases: DFNA40 autosomal dominant deafness 40	CRYM	1428	Homo sapiens (human)	Alliance of Genome Resources

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