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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3676 - 3700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	CHST3 GGT1 HSD3B7 SEMA7A	2678 80270 8482 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: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:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 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:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	CHST3	9469	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:3029	colon mucinous adenocarcinoma Aliases: Colonic mucinous adenocarcinoma	CHST4	10164	Homo sapiens (human)
DOID:12318	granular corneal dystrophy	CHST6 LCAT	3931 4166	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
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: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:0050852	limb ischemia	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:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	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:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLC EXT2 INPP5B NAGLU OCRL	1178 2132 3633 4669 4952	Homo sapiens (human)
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	Homo sapiens (human)
DOID:869	cholesteatoma	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS TLR2 TLR4	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 7097 7099 93978	Homo sapiens (human)
DOID:7439	polyp of middle ear Aliases: polyp - middle ear polyp of the middle ear	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 93978	Homo sapiens (human)
DOID:0060888	transient myeloproliferative syndrome Aliases: MST TAM transient abnormal myelopoiesis transient leukemia transient leukemia of Down syndrome transient myeloproliferative disease	CLEC10A COMT CYP19A1 OVGP1 SIRT4 SLC35G1	10462 1312 1588 159371 23409 5016	Homo sapiens (human)
DOID:0080089	tubular aggregate myopathy 1	CLEC10A CYP19A1 GFPT1 MTM1 MTMR14 OVGP1 SIRT4	10462 1588 23409 2673 4534 5016 64419	Homo sapiens (human)
DOID:8913	dermatophytosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)

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