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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 **576 - 600** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0090114	Sorsby's fundus dystrophy Aliases: SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby	RPE	6120	Homo sapiens (human)
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:10845	St. Louis encephalitis Aliases: Neuroinvasive St. Louis encephalitis virus infection	ACE CALR CAT CD14 CD33 CD48 FCN2 GLT1D1 LGALS1 MICA PIK3CD SELL SELP SEMA7A SGMS1 SIGLEC1 SOAT1	100507436 144423 1636 2220 259230 3956 5293 6402 6403 6614 6646 811 847 8482 929 945 962	Homo sapiens (human)
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	AKR1A1 ELOVL4 NYX PNPLA6 PPT1 RPE	10327 10908 5538 60506 6120 6785	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	ACADS ACSS2 AKR1B1 ALOX5 CD33 CYP2B6 CYP2C19 CYP2C9 CYP3A4 FOLR1 FOLR2 HSPG2 MASP2 MICA PARP1 PLA2G15 PTGIS PTGS2 SDHD SGSH SLC17A5 TNF UPP1	100507436 10747 142 1555 1557 1559 1576 231 2348 2350 23659 240 26503 3339 35 55902 5740 5743 6392 6448 7124 7378 945	Homo sapiens (human)
DOID:0080046	Stickler syndrome	CEACAM5 CEACAM6 COL9A2 PTGS2 TECTA	1048 1298 4680 5743 7007	Homo sapiens (human)
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	GAD1 GAD2 GLUL HSD17B4 ISYNA1 PLA2G1B PLA2G2A PLA2G6	2571 2572 2752 3295 51477 5319 5320 8398	Homo sapiens (human)
DOID:0040084	Streptococcus pneumonia	HACD1 MASP2 MBL2 PKD1 PTGS1 PTGS2 STS	10747 412 4153 5310 5742 5743 9200	Homo sapiens (human)
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)
DOID:11200	T cell deficiency Aliases: T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	ABO ACE AKR1C1 AKR1C3 APRT ARSA CALR CAT CD14 CD22 CD33 CD38 CD44 CD55 CERS6 CHKA CNTN2 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 ENO2 FCER2 FCGR3B FUT1 FUT4 HACD1 HPGDS HPRT1 HPSE2 HSD17B1 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5D LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAAA NAMPT NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLCG1 POGLUT1 PRKAA2 PSMD10 PTEN PTGES RENBP SACM1L SCD5 SELE SELL SIGLEC7 SMUG1 SOAT1 ST6GAL1 STS TALDO1 TIGAR TMED5 TMED9 UNG VCAM1 VCAN XYLT2	10135 1119 142 1462 1543 1555 1576 1577 1604 1636 1645 2026 2208 2215 22908 22925 23583 2523 2526 253782 27036 27163 27306 28 3251 3292 3383 3417 3418 3425 353 3635 3938 3956 3958 3965 410 412 4360 4507 4684 4968 50999 51084 5290 5291 5293 5294 5335 54732 5563 56983 57103 5716 5728 5973 60495 6401 6402 64132 6480 6646 6888 6900 7374 7412 79966 811 847 8644 8809 9200 929 933 945 9487 952 9536 960	Homo sapiens (human)
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	ARSA CD33 CNTN2 FCER2 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG POGLUT1 PTEN SOAT1	2208 3418 410 5290 5291 5293 5294 56983 5728 6646 6900 945	Homo sapiens (human)
DOID:0080148	T-cell childhood lymphoblastic lymphoma Aliases: Childhood T lymphoblastic lymphoma	CD33 ICAM1	3383 945	Homo sapiens (human)
DOID:0081312	T-cell non-Hodgkin lymphoma	IER3 TMEM260 TP53	54916 7157 8870	Homo sapiens (human)
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:3320	Tay-Sachs disease Aliases: GM2 gangliosidosis, type 1 hexosaminidase A deficiency	ARSA GBA1 GM2A HEXA HEXB HEXD NEU3 OGA	10724 10825 2629 2760 284004 3073 3074 410	Homo sapiens (human)
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	SMUG1	23583	Homo sapiens (human)
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG NT5E PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 4907 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)

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