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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1576 - 1600** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0090022	split hand-foot malformation 5 Aliases: SHFM5	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	Homo sapiens (human)
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	CAT CLEC7A DPAGT1 FCN2 FDPS FH G6PD PGD PNP SLC5A1 TLR2 TLR4 TNF	1798 2220 2224 2271 2539 4860 5226 64581 6523 7097 7099 7124 847	Homo sapiens (human)
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	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:5844	myocardial infarction Aliases: Myocardial infarct heart attack	ABO ACACA ACACB ACE ACHE ACOT7 ACSL1 ACSL5 ACSL6 ACSS1 ACSS2 ADH1B ADH1C ADH5 ADIPOQ AGPAT2 AKR1A1 AKR1D1 AKT1 ALDH2 ALOX12 ALOX15 ALOX5 ANXA5 ANXA7 APEX1 APRT ARSA ATP6AP2 B3GNT2 BAAT CALR CANX CAT CD14 CD44 CD93 CDH13 CEACAM5 CEACAM7 CHAT CHGA CHI3L1 CLEC16A CLEC4E CLEC6A COMT CPT1A CPT1B CPT2 CS CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DGCR2 DGKA DGKZ DHCR24 DLD EFNA1 ELOVL2 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 FADS2 FBP1 FCGR3B FCN1 FCN2 FCN3 FOLR1 FOLR2 FUT4 FUT7 G6PD GAL3ST1 GCLC GFPT2 GGT1 GLA GLO1 GPI GPLD1 GPNMB GPX1 GPX3 GSK3B GYS1 HADH HK2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 ICAM1 IGF2R IL18R1 ISYNA1 ITPK1 KL KLRK1 LARGE2 LCAT LCT LDHA LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPL LTA4H LTC4S MAG MASP1 MBL2 MDH2 MGLL MICA MPI MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NT5E NTM OGA OGG1 OLR1 PARP1 PC PCYT1A PDHB PIGA PIGQ PIK3C2A PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PLPP3 PMM2 PNPLA2 POFUT1 PPARA PPARGC1A PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB RBP4 REG1B RENBP SDC1 SDC4 SELE SELL SELP SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC3A1 SLC5A1 SMPD1 SMPD2 SMPD4 SMUG1 SOAT1 SPTLC2 ST3GAL4 ST6GALNAC1 SULT1E1 TBXAS1 TLR4 TM7SF2 TMED5 TMTC3 TNF UGGT2 UGT1A1 VCAM1 VCAN XYLT2	100507436 1012 10135 10159 10327 10457 1048 10555 10559 10678 10724 10855 1087 10891 1103 1113 1116 11332 11343 120071 120227 125 126 128 1312 1374 1375 1376 142 1431 1462 151056 1543 1544 1545 1555 1557 1558 1559 1573 1576 1579 1581 1584 1585 1586 1588 1593 160418 1605 1606 1634 1636 1718 1738 1942 2023 2026 2053 207 217 2180 2203 2215 2219 2220 22914 22918 22933 23236 23274 23305 23409 2348 2350 23509 23583 23659 239 240 246 2526 2529 2539 26253 2678 2717 2729 27306 2739 28 2821 2822 2876 2878 2932 2997 3033 308 3099 31 310 32 328 3290 3291 3340 3383 3482 353 3705 3931 3938 3939 3956 3957 3958 3988 3990 4023 4048 4051 4056 4099 410 4153 4191 43 4351 4507 4684 4907 4968 4973 50487 50863 5091 50999 5130 51477 51548 5162 5167 51703 5277 5286 5288 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5330 5331 5337 5373 54187 5465 54658 54898 55247 55627 5563 55757 55808 55902 5621 5648 570 57104 5716 5728 5730 5740 5742 5743 5834 5950 5968 5973 60481 60495 6382 6385 6401 6402 6403 64132 6484 6517 6519 6523 6609 6610 6646 6718 6783 6785 6916 7099 7108 7124 7412 79071 7941 81031 811 821 8398 84532 847 8525 8529 8547 8560 8613 8809 9091 9197 929 9365 9370 9388 93978 9415 9514 9517 9536 960 9945 9993	Homo sapiens (human)
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	CAT HPGDS SPTLC1	10558 27306 847	Homo sapiens (human)
DOID:11695	portal vein thrombosis	CHI3L1 NAAA PC PIGM SELP SLC17A5 SMUG1	1116 23583 26503 27163 5091 6403 93183	Homo sapiens (human)
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	PI4KA SLC25A1	5297 6576	Homo sapiens (human)
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	ACE	1636	Homo sapiens (human)
DOID:12377	spinal muscular atrophy	ACHE ALPI ALPP ARSF ASAH1 CALR CANX CAT CHODL CNTN1 FCN2 FUT1 GAPDH GM2A HEXA HEXB HSPG2 KDSR LGALS3 PGK1 PRNP PTEN PTGS2	1272 140578 2220 248 250 2523 2531 2597 2760 3073 3074 3339 3958 416 427 43 5230 5621 5728 5743 811 821 847	Homo sapiens (human)
DOID:13452	scleritis	ACE TNF	1636 7124	Homo sapiens (human)
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	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:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	GYS2	2998	Homo sapiens (human)
DOID:7763	carcinoma of supraglottis Aliases: Supraglottic carcinoma	PTEN	5728	Homo sapiens (human)
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A	64581	Homo sapiens (human)
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)
DOID:1751	malignant conjunctival melanoma Aliases: Conjunctival melanoma malignant melanoma of conjunctiva	MICA PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:9362	status asthmaticus Aliases: Asthma with status asthmaticus Severe asthma attack	CD14	929	Homo sapiens (human)
DOID:883	parasitic helminthiasis infectious disease Aliases: helminth infection helminthiasis helminthosis worm infection	ABO AGXT CD38 CLEC7A FCER2 GLB1 IL1RL1 SUCLA2	189 2208 2720 28 64581 8803 9173 952	Homo sapiens (human)
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:1588	thrombocytopenia	ABO ACHE ADH1B ALG8 ASGR1 BAAT C1GALT1 CAT CD209 CD44 CD72 CEACAM5 CLEC1B COG1 COG4 COG6 COMT CYP2C8 CYP3A4 DGKE EFNA5 ELOVL4 EOGT FCGR3B G6PC3 GALE GBA1 GGT1 GNE HPSE HSPG2 KDSR MBD4 MBL2 MMUT MPI MRC1 MYORG NAAA NCAM1 OCRL PCCA PCCB PIK3C2A PIK3CA PIK3CB PIK3CD PMM2 PNLIP PSAP PTEN PTGS1 PTGS2 SC5D SELP SLC17A5 SLC35A1 SOAT1 SPHK2 STT3B TALDO1 TBXAS1 TNF UGT1A1 XYLT2	10020 1048 10559 10855 125 1312 1558 1576 1946 201595 2215 2531 2582 25839 2629 26503 2678 27163 28 285203 30835 3339 4153 43 432 4351 4360 4594 4684 4952 5095 5096 51266 5286 5290 5291 5293 5373 5406 54658 5660 56848 56913 570 5728 5742 5743 57462 57511 6309 6403 64132 6646 6785 6888 6916 7124 79053 847 8526 8930 92579 9382 960 971	Homo sapiens (human)
DOID:4896	bile duct adenocarcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)

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