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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 **10326 - 10350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	BMP4 MYC NPY5R PRL PTGS2	4609 4889 5617 5743 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	LHB	3972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050880	Koolen de Vries syndrome Aliases: 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome	KANSL1	284058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080267	autosomal dominant nonsyndromic deafness 71	DMXL2	23312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	VEGFC	7424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112180	urocanase deficiency Aliases: UROCD encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria	UROC1	131669	Homo sapiens (human)	Alliance of Genome Resources
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	HEXA	3073	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14227	azoospermia	BSCL2 CDC34 CDC42BPA CDC42BPB CDC42BPG ISYNA1 NDST1 NDST2 NDST3 NDST4 PTPRD PTPRF PTPRS RBBP4 SCAPER SNRPA1 UBE2R2	26580 3340 49855 51477 54926 55561 5789 5792 5802 5928 64579 6627 8476 8509 9348 9578 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	7167	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:4929	tubular adenocarcinoma Aliases: tubular carcinoma	ZFHX3	463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110423	dilated cardiomyopathy 1C Aliases: CMDC1 dilated cardiomyopathy 1C with or without left ventricular noncompaction	LDB3	11155	Homo sapiens (human)	Alliance of Genome Resources
DOID:4468	clear cell adenocarcinoma Aliases: Mesonephroid Clear cell carcinoma Mesonephroma, malignant Water-clear cell adenocarcinoma Water-clear cell carcinoma Wolffian duct neoplasm malignant Mesonephroma mesonephroma	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	CFC1 CFC1B HSPG2 MED13L SLC19A1	23389 3339 55997 653275 6573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	ADIPOQ AKT1 ANK3 AVPR1B BMAL1 BRD1 CAMK2A CCL2 CDC42 CHRM2 CHRNB3 CLOCK COMT CS ERBB4 ETV1 GABRA3 GABRA5 GAD1 GAD2 GRIN2A GRIN2B GRK3 GRN GSK3B HLA-DRA HTR2C IMPA2 KAT6B L1CAM MBL2 NCAM1 NGF NRG1 NTRK2 PER3 PTGS1 PTGS2 RELN SLC18A1 SLC6A4 SNCA SRSF3 SSTR5 SYNE1 TNFRSF11B TTK VWF	1129 1142 1312 1431 157 2066 207 2115 23345 23522 23774 2556 2558 2571 2572 288 2896 2903 2904 2932 3084 3122 3358 3613 3897 406 4153 4684 4803 4915 4982 553 5649 5742 5743 6347 6428 6532 6570 6622 6755 7272 7450 815 8863 9370 9575 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	BMP4 GATA4 SOS1 TBX2	2626 652 6654 6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:9286	priapism Aliases: Mentulagra	F13A1 MDM2	2162 4193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070004	myeloid neoplasm	CBL CD36 F3 FGFR1 GPX1 MECOM	2122 2152 2260 2876 867 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	ATXN2 ATXN2L	11273 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050711	aceruloplasminemia	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)	Alliance of Genome Resources

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