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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 **7801 - 7825** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	Lrp5	16973	Mus musculus (house mouse)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0050527	obsolete familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:0050526	Gamstorp-Wohlfart syndrome Aliases: autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	ins	30262	Danio rerio (zebrafish)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	GLK1	850317	Saccharomyces cerevisiae S288C
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Hex-t1	117364	Drosophila melanogaster (fruit fly)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	APRT CEL CYB5R4 FBP1 FOLR2 GAD1 GCK GGT1 GPD1 HK1 HK2 HK3 HKDC1 IL18R1 INS PCK1 PDHX PDX1 PLCG1 PPP1R3B SACM1L SLC2A2	1056 2203 22908 2350 2571 2645 2678 2819 3098 3099 3101 353 3630 3651 5105 51167 5335 6514 79660 80201 8050 8809	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Gck Ins2 Pdx1	103988 16334 18609	Mus musculus (house mouse)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Gck Ins2 Pdx1	24385 24506 29535	Rattus norvegicus (Norway rat)
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	APRT CAT CD38 CD44 CNTN2 CYP1A1 ENO2 FCGR3B FUT4 ICAM1 LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PSMD10 PTEN RENBP SACM1L SELL SOAT1 TIGAR TMED5 TMED9 VCAM1	10135 1543 2026 2215 22908 2526 3383 353 3938 3956 3958 3965 4360 4507 4684 50999 5290 5291 5293 5294 5335 54732 57103 5716 5728 5973 6402 6646 6900 7412 847 952 960	Homo sapiens (human)
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	N	31293	Drosophila melanogaster (fruit fly)
DOID:0050508	variola major	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)
DOID:0050495	exanthema subitum Aliases: Roseola Infantum Sixth Disease	ABO CANX CDS1 CYB5R3 FCN2 HPGDS IL18R1 MRC1	1040 1727 2220 27306 28 4360 821 8809	Homo sapiens (human)
DOID:0050486	exanthem	ALPP BST2 CD44 CLEC7A CYP27B1 CYP2C9 CYP2E1 ENO1 ENOSF1 ENPP1 GLUL HPGDS IDH1 IDH2 KDSR LACC1 LDHB LGALS3 LGALS9 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDHA SDHB SDHC SDHD SIRT6 SMUG1 TPI1	144811 1559 1571 1594 2023 23583 250 2531 27306 2752 3417 3418 3945 3958 3965 4069 51548 5167 5290 5291 5293 5294 55556 5728 5743 6389 6390 6391 6392 64581 684 7167 960	Homo sapiens (human)
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	CYP11B1 CYP11B2 CYP17A1 HSD11B2 PTGS2	1584 1585 1586 3291 5743	Homo sapiens (human)
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	ATRN HADHA PNPLA2	3030 57104 8455	Homo sapiens (human)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	Tnf	21926	Mus musculus (house mouse)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	CERS3 TNF	204219 7124	Homo sapiens (human)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0050474	Netherton syndrome	Gba1	14466	Mus musculus (house mouse)
DOID:0050474	Netherton syndrome	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	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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