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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 **5151 - 5175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:299	adenocarcinoma	N	31293	Drosophila melanogaster (fruit fly)
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)
DOID:0060613	X-linked cleft palate with or without ankyloglossia Aliases: X-linked cleft palate and ankyloglossia	EBP PGK1	10682 5230	Homo sapiens (human)
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	ALDH3A2 COG6 CYP27B1 CYP2R1 GALNT3 OCRL PTDSS1	120227 1594 224 2591 4952 57511 9791	Homo sapiens (human)
DOID:5842	testis seminoma Aliases: Seminoma of testis Seminoma testis testicular Seminoma Pure	ACACA ACE ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP3A5 CYP3A7 ETNK1 GGT1 HMMR HPGDS ICAM1 IL18R1 L1CAM LDHC LGALS3 LY6K MCFD2 MRC1 PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 UGT1A1	1047 124912 1543 1551 1555 1577 1586 1588 1636 23213 23583 250 2678 27306 31 3161 3383 3897 3948 3958 412 4360 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 8809 90411 960	Homo sapiens (human)
DOID:11204	allergic conjunctivitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ACACA ACADL ACHE ACOT7 ACOX1 ACSL1 ACSM3 ACSS2 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH2 ALDH7A1 ALPP ANXA5 ANXA7 ATRNL1 B3GAT3 CD44 CEACAM5 CEACAM7 CERS4 CHI3L1 CLEC7A COMT CPT1A CRYL1 CYP17A1 CYP2C9 DCN DLD ECHS1 ELOVL6 ENO1 FASN FBP1 FOLR2 G6PD GALNT14 GCK GGT1 GNPAT GOLPH3 GPC3 HK1 HK2 HMGCS2 HPGDS HSD17B4 HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R KLRC1 KLRK1 LGALS1 LGALS9 MICA MRC1 MTMR14 OGT PARG PARP1 PCK1 PCK2 PCYT1B PEMT PFKM PGK1 PGM5 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PNPLA3 PRKAA2 PSMD10 PTEN PTGS2 RGN RPE RPIA RTN4R SCD SELP SHMT2 SIRT4 SIRT6 SLC17A5 SLC2A4 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 STS SULF1 SULF2 TIGAR UGT1A1 UGT2B7 VCAM1 VCAN	100507436 10400 1048 1087 1109 1116 11332 1312 1374 142 1462 1559 1586 1634 1645 1646 1738 1892 2023 217 2180 2194 2203 22914 22934 23213 23409 2350 23583 250 2539 26033 26229 2645 26503 2678 2719 27306 308 3098 3099 31 310 3158 3295 33 3339 3383 3417 3418 3425 3482 3821 3956 3965 412 43 4360 501 51 5105 5106 51084 51548 5213 5230 5239 5290 5291 5293 5294 5315 54658 5563 55902 55959 56848 57016 57103 5716 5728 5743 6120 6296 6319 6403 64083 64419 64581 6472 65078 6517 6609 6646 6652 6716 7364 7412 79071 79603 79623 80339 8398 8443 8473 8505 8644 8877 9104 9468 960	Homo sapiens (human)
DOID:0110254	cataract 25 Aliases: CCSSO CTRCT25 central pouch-like cataract with sutural opacities central saccular cataract with sutural opacities early-onset cataract with Y-shaped suture opacities	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0081001	Cowden syndrome 5	Pik3ca	18706	Mus musculus (house mouse)
DOID:0110970	brachydactyly type C Aliases: BDC	MGAM MGAT3 SI	4248 6476 8972	Homo sapiens (human)
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	EMI2 GAC1 GIP2 GLK1 HXK1 HXK2	850317 850614 852128 852639 854350 856781	Saccharomyces cerevisiae S288C
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	303244	Rattus norvegicus (Norway rat)
DOID:3852	Peutz-Jeghers syndrome Aliases: Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:5691	visual cortex disease Aliases: visual cortex dysfunction	FDFT1 PIGP	2222 51227	Homo sapiens (human)
DOID:11396	pulmonary edema	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	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:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)
DOID:2559	opiate dependence Aliases: Opioid type dependence	Comt	24267	Rattus norvegicus (Norway rat)
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACE ANXA5 DLAT EFNA1 EOGT GUSB ICAM1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 VCAM1	1636 1737 1942 23583 285203 2990 308 3383 5130 5290 5291 5293 5294 5728 7412	Homo sapiens (human)
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)

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