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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4251 - 4275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:8466	retinal degeneration Aliases: degeneration of retina	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:5844	myocardial infarction Aliases: Myocardial infarct heart attack	CIT1 CIT2 CIT3 CTS2 MDH1 MDH2 MDH3 ZWF1	850361 851481 851977 853777 853994 855480 855732 856107	Saccharomyces cerevisiae S288C
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	CIT1 CIT2 CIT3 CTS2 GLC7 MDH1 MDH2 MDH3	850361 851481 851977 853777 853994 855732 856107 856870	Saccharomyces cerevisiae S288C
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
DOID:12318	granular corneal dystrophy	CHST6 LCAT	3931 4166	Homo sapiens (human)
DOID:3029	colon mucinous adenocarcinoma Aliases: Colonic mucinous adenocarcinoma	CHST4	10164	Homo sapiens (human)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	CHST3	9469	Homo sapiens (human)
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	CHST3	9469	Homo sapiens (human)
DOID:4367	apparent mineralocorticoid excess syndrome Aliases: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess	CHST3 HSD11B1 HSD11B2 PIK3CA	3290 3291 5290 9469	Homo sapiens (human)
DOID:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 9469	Homo sapiens (human)
DOID:4080	tricuspid valve insufficiency Aliases: Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation	CHST3 HADHA HADHB PLD1 PTGS2 SDHD	3030 3032 5337 5743 6392 9469	Homo sapiens (human)
DOID:2634	cystadenoma Aliases: Cystoma	CHST3 GOLPH3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SFTPC TNFRSF10C	5290 5291 5293 5294 5728 64083 6440 8794 9469	Homo sapiens (human)
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	CHST3 GGT1 HSD3B7 SEMA7A	2678 80270 8482 9469	Homo sapiens (human)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CHST3 FAM20B PGM3 XYLT1 XYLT2	5238 64131 64132 9469 9917	Homo sapiens (human)
DOID:4624	Ollier disease Aliases: DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS	CHST3 EXT1 EXT2 HSPG2 IDH1 IDH2	2131 2132 3339 3417 3418 9469	Homo sapiens (human)
DOID:3076	adult astrocytic tumor Aliases: adult astrocytic tumour adult astrocytoma	CHST15 ENPP1 IDH1 IDH2 LGALS3	3417 3418 3958 51363 5167	Homo sapiens (human)
DOID:3079	childhood astrocytic tumor Aliases: juvenile astrocytoma pediatric astrocytoma	CHST15 ENPP1 GLB1 GOLPH3 IDH1 IDH2 LGALS3 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA	142 2720 3417 3418 3958 51363 5167 5290 5291 5293 5294 5728 6389 64083	Homo sapiens (human)
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	CHST14	113189	Homo sapiens (human)
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)
DOID:1673	pneumothorax	CHST14 PTGS1 PTGS2 SMUG1 TECR	113189 23583 5742 5743 9524	Homo sapiens (human)
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	CHST11 GLB1 PIK3CA PIK3CB PIK3CD PIK3CG VCAN	1462 2720 50515 5290 5291 5293 5294	Homo sapiens (human)

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