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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 **6951 - 6975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:0110538	autosomal recessive nonsyndromic deafness 96 Aliases: DFNB96 autosomal recessive deafness 96	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:5077	subependymal giant cell astrocytoma Aliases: SEGA	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	AGPS ARSB ARSH B3GALT6 COL9A2 DHCR24 EBP EXTL3 FDFT1 GNPAT GUSB MSMO1 NEU1 NSDHL SLC26A2 STS SUMF1 TMEM165 XYLT1	10682 126792 1298 1718 1836 2137 2222 285362 2990 347527 411 412 4758 50814 55858 6307 64131 8443 8540	Homo sapiens (human)
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)
DOID:5409	lung small cell carcinoma	Axn N	31293 43565	Drosophila melanogaster (fruit fly)
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	dally	39013	Drosophila melanogaster (fruit fly)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	SMC3	32627	Drosophila melanogaster (fruit fly)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	Alg12	41191	Drosophila melanogaster (fruit fly)
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	LysB LysD LysE LysP LysS LysX	38122 38125 38127 38128 38129 38130	Drosophila melanogaster (fruit fly)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	tw	31024	Drosophila melanogaster (fruit fly)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Hex-t1 Hex-t2	117364 43191	Drosophila melanogaster (fruit fly)
DOID:104	bacterial infectious disease	Ostgamma Sdc Ugalt	31255 34137 37447	Drosophila melanogaster (fruit fly)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	Tl beta4GalNAcTA beta4GalNAcTB	36585 43222 43425	Drosophila melanogaster (fruit fly)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:8719	in situ carcinoma	Lerp	43223	Drosophila melanogaster (fruit fly)
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	35156	Drosophila melanogaster (fruit fly)
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	dally	39013	Drosophila melanogaster (fruit fly)
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	CG31115 CG8668 CG8673 Hs3st-B Mgat4a Mtap Ogg1 Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2 alpha4GT1 alpha4GT2 brn	31358 31806 318597 32918 33512 34105 34107 35105 35137 35138 35139 36955 39608 40079 41334 41574 42538 43124 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	Hex-t2	43191	Drosophila melanogaster (fruit fly)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	PyK Sirt4 Tl Zw	31480 32974 42620 43222	Drosophila melanogaster (fruit fly)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	Calr FucTB Parp1	3355109 34260 41166	Drosophila melanogaster (fruit fly)

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