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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 **6726 - 6750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	fktn	100006345	Danio rerio (zebrafish)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SLC25A1 SULT1E1	130749 1312 2629 27163 3340 410 6576 6783 8398 9993	Homo sapiens (human)
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	ACACA ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	ABO ACACA ACE ALOX12 ATRN CAT CD248 CD44 CYP24A1 CYP27A1 CYP27B1 CYP2B6 FUT1 GGT1 GPC3 HPGDS HSD11B1 HSD11B2 ICAM1 INPP5A INPP5K ISYNA1 KDSR LGALS3 LGALS9 LTA4H MICA MRC1 MTAP NCAM1 NTHL1 OCRL OGG1 PARP1 PEMT PIGU PIK3CA PIK3CD PIK3CG PKM PTEN PTGES PTGS2 SDC1 SDHB SIRT2 SIRT6 SORD STT3A SULF2 TALDO1 TDG TNKS2 VCAM1 VCAN XYLT2	100507436 10400 128869 142 1462 1555 1591 1593 1594 1636 22933 239 2523 2531 2678 2719 27306 28 31 3290 3291 3383 3632 3703 3958 3965 4048 4360 4507 4684 4913 4952 4968 51477 51548 51763 5290 5293 5294 5315 55959 57124 5728 5743 6382 6390 64132 6652 6888 6996 7412 80351 8455 847 9536 960	Homo sapiens (human)
DOID:5690	well-differentiated liposarcoma Aliases: atypical lipomatous tumor	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:9256	colorectal cancer	akt1.S galnt12.L	108719043 399170	Xenopus laevis (African clawed frog)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C
DOID:3690	brachial plexus neuropathy Aliases: Brachial plexus disorder brachial plexopathy	SMUG1	23583	Homo sapiens (human)
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	MBL2	4153	Homo sapiens (human)
DOID:1143	exotropia Aliases: Divergent Strabismus Divergent concomitant strabismus	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CTS2	851977	Saccharomyces cerevisiae S288C
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	ACO2	50	Homo sapiens (human)
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	Hk1 Pgf Tnf	15275 18654 21926	Mus musculus (house mouse)
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ACE	1636	Homo sapiens (human)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ABO ACACA ACADM ACADSB ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADH1C ADH5 ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARSA ARSD ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CLEC10A CLEC4G CLGN CNTN1 CNTN3 CNTN4 COMT CPM CPT1A CPT1C CPT2 CRYL1 CSPG4 CYB5R3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2U1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 CYP7B1 DAG1 DBT DCN DERA DGKA DHCR24 DHDDS DHRS11 DLAT DLD DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FIG4 FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT8 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPC1 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB H6PD HACD1 HADHB HAS1 HAS2 HJV HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST3A1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HYAL1 HYAL2 ICAM1 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 INPP4B INPP5D INPP5J INPP5K INPPL1 ISYNA1 KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN2C1 MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT5 MGLL MICA MMP17 MMP25 MPG MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NT5E NTHL1 OGA OGG1 OGT OLR1 OPCML PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB3 PFKFB4 PFKM PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G2A PLA2G4A PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP5 PNP PNPLA2 POFUT1 PPP1R3B PPT1 PRG2 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGM RECK RENBP RGN RPN2 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC2 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TALDO1 TBXAS1 TDG TIGAR TKT TKTL1 TM7SF2 TMED3 TMEM199 TMTC3 TNFRSF10C TNKS2 TNKS TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT2B15 UGT2B17 UGT2B7 UGT8 UMOD UMPS VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10462 1047 1048 1056 10610 10682 10724 10728 10855 1087 10873 11041 1109 1113 11141 11145 1116 1118 1119 11226 11332 11343 113612 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1629 1634 1636 1645 1646 166929 1718 1727 1737 1738 1800 1890 1892 1942 1943 1946 2023 2026 2131 2132 2137 217 218 2180 2182 219 2194 220 220074 2203 2215 226 22856 22914 22925 22933 231 23175 23205 23213 23236 2331 23396 23409 23423 2350 23509 23545 23583 23600 23659 239 240 247 248 249 250 2517 2523 2524 2525 2526 2530 253782 2539 2572 25796 2583 2588 2597 26033 26035 2619 2651 2653 266722 2673 2674 2683 27036 27087 27124 2719 2720 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 2876 2877 2878 2882 28992 2923 2990 29940 29956 3032 3036 3037 307 308 3098 3099 31 310 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3340 3373 3383 339390 34 340075 3417 3418 3423 3425 347734 3482 353 3554 36 3612 3635 3636 3897 3906 3939 3945 3948 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4123 414 4153 4245 4249 427 43 4326 4350 4360 4507 4534 4595 4680 4684 47 4758 4860 4907 4913 4968 4973 4978 50 501 50515 50614 5067 5091 51071 51084 51144 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5209 5210 5213 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 54187 54575 54576 54578 54657 54658 54659 54742 54936 54965 5538 55512 5552 5553 5563 55750 55799 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56913 56965 56994 570 57016 57103 57104 57126 5716 57214 5728 5730 5740 5742 5743 57452 57818 5837 5973 6185 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7086 7108 7167 7355 7357 7358 7364 7366 7367 7368 7369 7372 7412 7903 79154 7923 79603 79623 79660 79679 79888 7991 79947 80201 80351 8050 81031 811 8128 81544 821 8277 8309 83539 83666 8396 8399 84002 8434 84513 847 84725 8473 84812 8482 8505 85365 8611 8630 8644 8658 8692 873 8733 874 8794 8809 8821 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9388 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 9896 9955	Homo sapiens (human)
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	315165	Rattus norvegicus (Norway rat)
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	KLRK1	22914	Homo sapiens (human)
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:3025	acinar cell carcinoma Aliases: acinic cell carcinoma	AMACR LYZ NT5E PIK3CA PTEN	23600 4069 4907 5290 5728	Homo sapiens (human)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 40079 41334 41574 42538 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	BRAF	673	Homo sapiens (human)
DOID:303	substance-related disorder	Gsk3b	56637	Mus musculus (house mouse)
DOID:552	pneumonia Aliases: acute pneumonia	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)

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