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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 **4051 - 4075** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB IDUA	2990 3425	Homo sapiens (human)
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ADH5 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2 ALOX12B CERS3 EBP ELOVL4 GBA1 HSD17B6 MRC1 NSDHL STS SULT2B1	10682 128 204219 218 2181 2182 221 222 224 242 2629 412 4360 50814 6785 6820 8630	Homo sapiens (human)
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 BST2 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SELP SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6403 6646 684 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)
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	CD44 COLGALT1 GPC1 GPC3 GPC5 GPC6 HPRT1 NAMPT PIGA SLC2A4	10082 10135 2262 2719 2817 3251 5277 6517 79709 960	Homo sapiens (human)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 IGF2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 3481 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:10921	Siberian tick typhus Aliases: North Asian tick fever North Asian tick typhus Rickettsia sibirica spotted fever manchurian typhus	CS	1431	Homo sapiens (human)
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	CYP2E1 LYZ PAFAH1B1 PTEN PTGS2	1571 4069 5048 5728 5743	Homo sapiens (human)
DOID:9476	Sheehan syndrome Aliases: Postpartum Hypopituitarism Sheehan's syndrome	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	ANXA5 CD44 IL18R1 KLRK1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC4 SELL SOAT1	142 22914 308 4507 5290 5291 5293 5294 5335 5728 6385 6402 6646 8809 960	Homo sapiens (human)
DOID:2997	Sertoli-Leydig cell tumor	HSD17B1 LGALS3	3292 3958	Homo sapiens (human)
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	ANXA5 CYP11A1 CYP17A1 CYP19A1 CYP2R1 EPHX2 GAPDH HPGDS HSD3B2 LCT LDHC PARP1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1583 1586 1588 2053 2597 27306 308 3284 3938 3948 412 5223 5290 5291 5293 5294 5552 5634 6716 83639	Homo sapiens (human)
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	ACE AGXT ALDH3A2 MLYCD UMOD	1636 189 224 23417 7369	Homo sapiens (human)
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK CS	1431 55750	Homo sapiens (human)
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	ACHE AKR1B1 CHST3 CYP2B6 CYP2C19 CYP2C9 HSPG2 MICA SGSH	100507436 1555 1557 1559 231 3339 43 6448 9469	Homo sapiens (human)
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	MLYCD	23417	Homo sapiens (human)
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	NAGA	4668	Homo sapiens (human)
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CD38 GNPTAB	79158 952	Homo sapiens (human)
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	ARSB CAT FUT1 IDUA	2523 3425 411 847	Homo sapiens (human)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	ARSA GLB1 GM2A HEXA HEXB HEXD OGA UGCG	10724 2720 2760 284004 3073 3074 410 7357	Homo sapiens (human)

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