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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 **3426 - 3450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:11446	sciatic neuropathy	CAT CERS2 CYP11A1 CYP17A1 GFRA1 GPX3 GSK3B HSD3B1 ICAM1 KCNJ11 MAG PCNA PPARGC1A REG3G RGMA TLR4 TNF	10891 130120 1583 1586 2674 2878 2932 29956 3283 3383 3767 4099 5111 56963 7099 7124 847	Homo sapiens (human)
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	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:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA2D1 GCDH GPI HSPG2 MTMR14	2639 2821 3339 64419 781	Homo sapiens (human)
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	ANXA4 CALR LGALS3 LSS MSLN PTGS2 ST3GAL1 TP53	10232 307 3958 4047 5743 6482 7157 811	Homo sapiens (human)
DOID:2495	senile angioma Aliases: Senile hemangioma Senile naevus of skin	PTEN	5728	Homo sapiens (human)
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	NTHL1 PGAP1 ST3GAL3 TECR TUSC3	4913 6487 7991 80055 9524	Homo sapiens (human)
DOID:8499	night blindness Aliases: 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:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)
DOID:13195	nontoxic goiter Aliases: Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre	ABO ALPP ATRNL1 CEACAM5 CEACAM7 GGT1 IDH1 IDH2 LDHA PIK3CA PKM PLA2G2A PLA2G6 PTEN PTGDS SDHB SDHC SDHD TM7SF2	1048 1087 250 26033 2678 28 3417 3418 3939 5290 5315 5320 5728 5730 6390 6391 6392 7108 8398	Homo sapiens (human)
DOID:0080198	infantile histiocytoid cardiomyopathy	IL1RL1	9173	Homo sapiens (human)
DOID:10754	otitis media	ABO AGA ALOX12B CAT CD14 CD44 COMT ENPP1 FUT2 GALNT14 ICAM1 IDUA LGALS1 MBL2 NAGLU NT5E OCRL PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SFTPA1 SFTPA2 STS SULT2B1 TGDS TLR2 TLR4 TNF	1312 175 23483 242 2524 28 3383 3425 3956 412 4153 4669 4860 4907 4952 5167 5238 5290 5291 5293 5294 5728 653509 6820 7097 7099 7124 729238 79623 847 929 960	Homo sapiens (human)
DOID:496	spindle cell hemangioma Aliases: SCH	ANXA5 IDH1 IDH2 PRKAA2 PTGS1 PTGS2	308 3417 3418 5563 5742 5743	Homo sapiens (human)
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	ACACA AKR1C1 AKR1C2 AKR1C3 ALOX12 ALOX15 ALOX5 ANXA4 APRT BST1 CALR CAT CD14 CD44 CD74 CEACAM5 CEACAM7 CSPG4 CYP19A1 CYP1A1 DLD FCN2 FOLR1 FOLR2 FUT4 GLB1 GPC1 GPC3 GPI HPGDS HPSE ICAM1 ICAM2 IDUA ITLN1 KLRK1 L1CAM LGALS3 LGALS9 MRC1 MSLN MTAP MTMR4 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTEN PTGS2 SDC1 SDC2 SIGLEC7 SLC26A2 SMUG1 SPHK1 TBXAS1 TM7SF2 TNFRSF10C TYMP VCAM1 VCAN	10232 1048 10855 1087 142 1462 1464 151056 1543 1588 1645 1646 1738 1836 1890 2220 22914 2348 2350 23583 239 240 246 2526 27036 2719 2720 27306 2817 2821 307 31 3383 3384 3425 353 3897 3958 3965 4360 4507 4907 5290 5291 5293 5294 5321 55600 5728 5743 6382 6383 683 6916 7108 7412 811 847 8644 8794 8877 9110 929 960 972	Homo sapiens (human)
DOID:0060784	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Aliases: EEC syndrome 1 EEC1	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	ABO ACE ACO1 ACSM3 ADH1B AGXT AKR1C4 ALDH2 ALG8 ALOX5 ALPL ARSA B3GLCT CACNA2D3 CALR CAT CD55 CEACAM5 CHI3L1 COG1 COG6 CRPPA CYP1B1 CYP2C8 ECHS1 ENO1 ENPP1 EXT2 FCGR3B FUT1 FUT2 FUT3 G6PC1 G6PC3 G6PD GBA1 GLA GNPTAB GPI GPX1 HK1 HMGCL HPRT1 HPSE ICAM1 IDH1 IDH2 IDUA KL LCAT LIPA LPIN2 MBL2 MMUT MPG NAAA NCAM1 OCRL PARP1 PCCA PCCB PDHA1 PFKM PGAM1 PGK1 PI4KA PIK3CA PKLR PNP PSAP PTEN PTGS2 SCD SDHA SDHB SDHC SFTPA1 SHMT2 SIGLEC1 SLC17A5 SLC39A8 SOAT1 TALDO1 TBXAS1 TMED3 UGCG UGT1A1 UMPS	1048 10855 1109 1116 125 142 145173 1545 1558 1604 1636 189 1892 2023 2132 217 2215 23423 240 249 2523 2524 2525 2538 2539 2629 26503 27163 2717 28 2821 2876 3098 3155 3251 3383 3417 3418 3425 3931 3988 410 4153 4350 4594 4684 48 4860 4952 5095 5096 5160 5167 5213 5223 5230 5290 5297 5313 54658 55799 5660 5728 5743 57511 6296 6319 6389 6390 6391 64116 6472 653509 6614 6646 6888 6916 729920 7357 7372 79053 79158 811 847 92579 9365 9382 9663	Homo sapiens (human)
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	ABO ACE BST2 CALR CD14 CD209 FCER2 IL18R1 IL1R1 MASP2 MBL2 PI4KB SULT1E1 TLR2 TNF	10747 1636 2208 28 30835 3554 4153 5298 6783 684 7097 7124 811 8809 929	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:4236	carcinosarcoma Aliases: MMMT malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor	NCAM1 PIK3CA PTEN SMUG1	23583 4684 5290 5728	Homo sapiens (human)
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	ACE	1636	Homo sapiens (human)
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	ACHE GBE1	2632 43	Homo sapiens (human)
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	CDH13 CYP17A1 CYP19A1 PKM PTEN PTGS2 TKTL1	1012 1586 1588 5315 5728 5743 8277	Homo sapiens (human)
DOID:3523	brain stem infarction Aliases: Brainstem infarction	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)
DOID:3206	plexiform schwannoma Aliases: Plexiform Neurinoma Plexiform neurilemmoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:8282	adult epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)

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