GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **2051 - 2075** of **4649** in total

« First

‹ Prev

…

79

80

81

82

83

84

85

86

87

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111717	isolated cryptophthalmia Aliases: CRYPTOP unilateral or bilateral isolated cryptophthalmos	FREM2	341640	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111715	Schaaf-Yang syndrome Aliases: MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome PWLS SHFYNG	CYFIP1 MAGEL2	23191 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	AQP5	362	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111706	oblique facial clefting 1 Aliases: Tessier number 4 facial cleft	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111705	oculoectodermal syndrome Aliases: Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111700	ankyrin-B-related cardiac arrhythmia Aliases: ankyrin-B syndrome	ANK2	287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	SCARF2	91179	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	PCSK1	5122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111696	familial adult myoclonic epilepsy 6 Aliases: BAFME6 FAME6 FCMTE6 benign adult familial myoclonic epilepsy 6 familial cortical myoclonic tremor and epilepsy 6	TNRC6A	27327	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	RAPGEF2	9693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111693	familial adult myoclonic epilepsy 4 Aliases: FAME4 FCMTE4 familial cortical myoclonic tremor and epilepsy 4	YEATS2	55689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111686	hereditary mixed polyposis syndrome 2 Aliases: HMPS2	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111683	neurofibromatosis-Noonan syndrome Aliases: NFNS Noonan neurofibromatosis syndrome neurofibromatosis type 1-Noonan syndrome neurofibromatosis with Noonan phenotype	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111682	diffuse cystic renal dysplasia Aliases: CYSRD renal dysplasia diffuse cystic susceptibility to cystic renal dysplasia	BICC1	80114	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	SLC46A1	113235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	WDR37	22884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements