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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 **1826 - 1850** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	DSG2	1829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110082	arrhythmogenic right ventricular dysplasia 11 Aliases: ARVC11 ARVD11 arrhythmogenic right ventricular cardiomyopathy 11 familial arrhythmogenic right ventricular dysplasia 11	DSC2	1824	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	JUP	3728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	CTNNA3	29119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly Aliases: SRPS5 SRTD7 short rib-polydactyly syndrome type V	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly Aliases: Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type IIA	NEK1	4750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110098	atopic dermatitis 2 Aliases: ATOD2	FLG	2312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	CCN1 NTF3	3491 4908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	GATA4	2626	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	TLL1	7092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	KRAS NRAS	3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110120	Axenfeld-Rieger syndrome type 1 Aliases: RIEG1 Rieger syndrome type 1	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	BMP4 FOXC1	2296 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	BBS9	27241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110143	Bartter disease type 2 Aliases: BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal	KCNJ1	3758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources

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