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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 **3801 - 3825** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050921	pharynx squamous cell carcinoma	CLPTM1L	81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070520	peeling skin syndrome 1 Aliases: PSS1 generalized inflammatory peeling skin syndrome inflammatory peeling skin syndrome peeling skin syndrome type B	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	SIN3A	25942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	TSHB	7252	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070151	hereditary sensory and autonomic neuropathy type 6 Aliases: HSAN6 hereditary sensory and autonomic neuropathy type VI	DST	667	Homo sapiens (human)	Alliance of Genome Resources
DOID:3500	gallbladder adenocarcinoma Aliases: adenocarcinoma of the gallbladder	ACE DDR2	1636 4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	EGR2 MPZ PMP22	1959 4359 5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	BMP2 BMP4 EDA GREM2 LRP6 TSPEAR WNT10A WNT10B	1896 4040 54084 64388 650 652 7480 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110648	long QT syndrome 6 Aliases: LQT6	KCNE2	9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	C3 CCL7 CD36 CHIA CSF2 CTLA4 EGR1 ELN HLA-DQB1 HNRNPA3 IL1RN KIF3A MARCO MMP13 TERT TNF	11127 1437 1493 1958 2006 220988 27159 3119 3557 4322 6354 7015 7124 718 8685 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110598	primary ciliary dyskinesia 14 Aliases: CILD14 primary ciliary dyskinesia 14 with or without situs inversus	CCDC39	339829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	SOX9	6662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	GRB7 SLC7A5 STAT3	2886 6774 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111981	immunodeficiency 43 Aliases: B2M deficiency IMD43 beta-2-microglobulin deficiency hypercatabolic hypoproteinemia	B2M	567	Homo sapiens (human)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	PYGL	5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	OXR1	55074	Homo sapiens (human)	Alliance of Genome Resources
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	CCR3 CD163 CSF2 HLA-DQA1 IL10 IL2RB LTA MBL2 NFE2L2 SLC11A1 TNF	1232 1437 3117 3560 3586 4049 4153 4780 6556 7124 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110816	hereditary spastic paraplegia 7 Aliases: SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7	SPG7	6687	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112353	spermatogenic failure 64 Aliases: SPGF64	FBXO43	286151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	THBD	7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050860	colorectal adenoma	CYP24A1 EZH2 F5 FOS GPX2 GPX3 JUN PTCH1 PTGIS RAF1 SELENOP SMAD4 TNFRSF1A TTR	1591 2146 2153 2353 2877 2878 3725 4089 5727 5740 5894 6414 7132 7276	Homo sapiens (human)	Alliance of Genome Resources

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