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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 **2501 - 2525** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110864	congenital stationary night blindness 1F Aliases: CSNB1F congenital stationary night blindness 1F autosomal recessive	LRIT3	345193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110863	congenital stationary night blindness autosomal dominant 2 Aliases: CSNBAD2 Rambusch type congenital stationary night blindness	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	RHO	6010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 AQP1 ARL3 BICC1 C3 CD14 CDC25A CFTR CYP4A11 CYP4A22 ELN GPBAR1 MTOR NEK1 PANX1 PIK3CA PKD1 PKHD1 SLC4A2 TMEM67 TSC1	1080 151306 1579 1636 2006 207 24145 2475 284541 358 403 4750 5290 5310 5314 6522 718 7248 80114 91147 929 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	GANAB	23193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	PKD2 PKD2L1 PKD2L2	27039 5311 9033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	MYC PKD1	4609 5310	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:0110856	posterior polymorphous corneal dystrophy 2 Aliases: Ppcd2	COL8A2	1296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110849	xeroderma pigmentosum group G Aliases: XP group G XP7 XPG xeroderma pigmentosum VII	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	POLH	5429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	XPC	7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110840	Usher syndrome type 2D Aliases: USH2D Usher syndrome type IID	WHRN	25861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C Aliases: USH2C Usher syndrome IIC Usher syndrome type IIC	ADGRV1 PDZD7 SLC4A7	79955 84059 9497	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110838	Usher syndrome type 2A Aliases: USH2A Usher syndrome type IIA	PDZD7 USH2A	7399 79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	PCDH15	65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110828	Usher syndrome type 3 Aliases: USH3	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources

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