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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **151 - 175** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050759	myotonic dystrophy type 2	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:450	myotonic disease	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG1L2 ALG3 ATP6AP2 B4GALT1 NUS1 PMM2	10159 10195 116150 2683 5373 56052 644974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC35C1 SLC37A4 TMEM165	10159 2542 2590 55343 55858 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110705	hypotrichosis 8 Aliases: Hypt8 Lah3 hypotrichosis, localized, autosomal recessive 3	LPAR6	10161	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1 SLC25A12 SLC25A13	10165 445 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3	10195	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ABCB1 ABCC2 ABCC8 ABCG2 ACAN ADAM10 ADAM9 ANK3 APEX1 APOD AQP1 AQP4 ATM BAX BDNF CASP6 CCL2 CCR5 CFL1 CKMT1A CKMT1B CNR1 CX3CL1 CYP11A1 DAB1 DMD DPYSL2 GABRB3 GHSR GRIA1 GRIA2 GRIK1 GRIN1 GRIN2A GRN GSK3B H2AX HCN1 HRH3 HSD11B1 HSPA1A IDH2 IL6ST KCNC4 KCNJ11 KCNK3 MEF2C MMP9 MTOR NLGN1 NLGN2 NR3C1 NT5E NTF3 OGG1 OLIG2 PGF PLAT PLAU PLAUR PTGS2 PTPRZ1 RELA RELN SLC6A8 SLC8A1 SLC8A2 SLC8A3 SOCS3 SOD2 SRC SSTR4 TFAM TNF XRN2	102 10215 1072 11255 1159 1234 1244 1268 1583 1600 1756 176 18 1808 22803 22871 2475 2562 2693 288 2890 2891 2896 2897 2902 2903 2908 2932 3014 328 3290 3303 3418 347 348980 3572 358 361 3749 3767 3777 4208 4318 472 4907 4908 4968 5228 5243 5327 5328 5329 548596 5649 5743 57555 5803 581 5970 627 6347 6376 6535 6543 6546 6547 6648 6714 6754 6833 7019 7124 839 8754 9021 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ABL1 ADAM10 ADAM28 ADGRB1 ADM AFF4 AKT1 AKT2 ALX4 ANTXR1 APC2 APC APOC3 ARID1A ARID2 ATF7 ATM AZGP1 BAMBI BAX BCOR BIRC2 BRCA1 BRCA2 BTK BUB1B CALR CASP9 CBL CDC73 CES1 CHD4 CHEK2 CTNNB1 CTNNBL1 CXCR4 CYP24A1 CYP2E1 DCC DDR1 DDR2 DDX3X DICER1 DLC1 DPYD DSN1 EEF1E1 EEF2 EGFR EIF5A EP300 ERBB4 ERCC6 EZH2 F7 FASN FAT1 FGFR3 FGR FLCN FOSL2 FOXA1 GAD1 GALNT12 GCLC GLI1 GPX1 GPX2 GRIN2A GRP HCK HDAC1 HDAC3 HDAC7 HFE HIF1A HILPDA HK1 HLA-DQB1 HNF1A HNRNPK HNRNPU HRAS HSPA8 IKZF1 IL6 IRS4 ITPKC JAK1 KDM3B KDM6A KDR KIF18A KRAS L1CAM LATS2 LIF LOX LRP1B MAP2K4 MAP4K4 MAPK9 MKI67 MLH1 MMP2 MMP9 MSH2 MYD88 NFE2L2 NOTCH1 NOTCH2 NOTCH3 NRAS NTRK3 NUF2 OSBP PBRM1 PDGFRL PIK3CA PIK3CB PIK3CD PLA2G2A PLCG1 POLD1 POLE PRDM1 PRDX2 PTEN PTPN12 PTPN13 PTPRJ PTPRT RAB1A RAC1 RAMP2 RAMP3 RBM10 RHOA RICTOR RNF43 SEPTIN9 SERPINA1 SERPINF1 SETD2 SHH SLC7A5 SMARCC1 SMC2 SMO SNAI1 SPOP SRC STAT3 STIM1 TBX3 TCF3 TET2 TGFB1 TGFB2 TGFB3 TGFBR1 THBS1 TLR2 TNFAIP3 TP53 TTR VEGFA XIAP XPO1 XPO5 XRCC1 YAP1 YTHDF1 ZFHX3	102 10266 10268 10297 10320 10395 10413 10592 1066 10801 10863 11016 1108 11122 11200 133 1499 1571 1591 1630 1654 1806 1938 1956 196528 1984 201163 2033 2066 207 2074 208 2146 2155 2194 2195 2261 2268 23405 2355 25 253260 2571 25805 26524 27125 2729 2735 2876 2877 2903 29072 2922 29923 3055 3065 3077 3091 3098 3119 3169 3190 3192 324 3265 329 331 3312 345 3569 3716 3791 3845 387 3897 3976 4015 4288 4292 4313 4318 4436 4615 463 472 4780 4851 4853 4854 4893 4916 4921 5007 51564 5157 5176 51780 5265 5290 5291 5293 5320 5335 53353 5424 5426 54790 54880 54894 54915 55193 5601 56259 563 5728 575 57510 5782 5783 5795 581 5861 5879 60529 639 6416 6469 6599 6608 6615 6714 672 675 6774 6786 6926 6927 6929 695 7001 701 7040 7042 7043 7046 7057 7097 7128 7157 7276 7403 7422 7514 7515 780 7852 79577 79695 79980 80271 811 8140 81930 8241 8289 83540 8405 84168 842 8471 867 8841 9448 9521	Homo sapiens (human)	Alliance of Genome Resources
DOID:83	cataract	ADAM10 AKR1B1 ALDH18A1 ANXA1 B2M BCOR BRCA2 CASP9 CAT CCK CCL11 CDKN1B CRIM1 CRYAA CRYAB CTH DNASE2B FAS FDFT1 G6PD GALK1 GCLC GCNT2 GPX1 HSF4 INTS1 LIM2 LSS MAP2K1 MMP3 NFE2L2 NR3C1 OGG1 PIK3C2A PIKFYVE PON1 PSMC3 RBM24 SIPA1L3 SLC2A14 SLC2A3 SLC45A2 SLC9A1 SOD1 SORD TRPM3 VPS13B WFS1	102 1027 1409 1410 144195 1491 157680 200576 221662 2222 23094 231 2539 2584 26173 2651 2729 2876 2908 301 3299 355 3982 4047 4314 4780 4968 51151 51232 5286 5444 54880 5604 567 5702 5832 58511 6356 6515 6548 6647 6652 675 7466 80036 842 847 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ACSL1 ADAM10 ADIPOQ AMN ASAH2 ATP5F1B BAG3 CASR CCL2 COL15A1 COL18A1 CXCR4 DES DGAT1 DOC2B DTNA EGFR ELAC2 EP300 ERBB2 ERBB3 ERBB4 GOT1 HDAC3 HFE HRAS IFNG IGF1R ITGA7 JPH1 JPH4 JUND JUP KLK1 KRAS LDB3 LEMD2 LRP1 MIF MLYCD MMP2 MMP9 MYH15 MYH1 MYH7 NCAM1 NONO NOS1 NOS3 NRAS PDLIM5 PDLIM7 POMT1 PPARGC1A PPP3CA RAF1 RRAGC SDHA SGCD SGCG SGCZ SLC22A5 SLC31A1 SLC4A1 SOD2 SPARC SPARCL1 SPHK1 SPHK2 SRF TAB2 TNF TNNI3 TSHR UTS2R	102 10585 10611 10891 11155 1306 1317 137868 1674 1837 1956 2033 2064 2065 2066 2180 221496 22989 23118 23417 2805 2837 3077 3265 3458 3480 3679 3727 3728 3816 3845 4035 4282 4313 4318 4619 4625 4684 4841 4842 4846 4893 506 5530 56624 56704 56848 5894 60528 6347 6389 64121 6444 6445 6521 6584 6648 6678 6722 7124 7137 7253 7852 80781 81693 8404 8447 84502 846 8694 8841 8877 9260 9370 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081292	traumatic brain injury	ADAM10 AHR APP BAD CAPN1 CD163 CIT CYP2D7 DRD1 DRD2 FTO FUBP1 GRIA1 LAMP2 LCN2 MAPT MMP2 NFE2L2 NGF NOX1 PDE10A TGFB1 TP53	102 10846 11113 1564 1812 1813 196 27035 2890 351 3920 3934 4137 4313 4780 4803 572 7040 7157 79068 823 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 ADAM10 ADAM17 COL1A1 COL6A3 CXCR3 FLNA LOX MFAP5 MMP12 MMP14 MMP1 MMP2 MMP8 MMP9 MYH11 MYLK PRKG1 SERPINE1 THSD4 TIMP1 TIMP3	102 1277 1293 2316 2833 345651 4015 4312 4313 4317 4318 4321 4323 4629 4638 5054 5592 58 59 60 6868 70 7076 7078 71 79875 8076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110050	Alzheimer's disease 18 Aliases: AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	ARX CDK15 CDK5 CDK5R2 DAG1 DYNC1H1 NOS1 NOS2 NOS3 PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A TUBA1B TUBA1C TUBA4A WDR75	1020 10376 10585 1605 170302 1778 29954 4842 4843 4846 5048 55624 65061 7277 7846 84128 84790 8941	Homo sapiens (human)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	ABAT ADRA2A AVPR1B BAX BDNF CAT CDK5 CHAT CHRM2 CHRNA3 CHRNB3 CHRNB4 CREB1 CRHBP CRHR1 CRHR2 CYP1A2 CYP2B6 CYP2C18 CYP2D7 CYP2E1 CYP3A5 DBH DRD1 DRD2 DRD5 FADD FOS FOSB GABRA5 GATA2 GDNF GPM6A GPM6B GPX1 GPX3 GSK3B HTR1A HTR2A HTR3B IL1RN IL6 IL6R JUN KMO L1CAM LINC02210-CRHR1 NCAM1 NEFL NGF NGFR NOS1 NPPC NPY1R NPY2R NR3C1 NTRK2 OPRK1 PANX1 PAWR PLA2G2A PLP1 PRL REN SLC5A7 SLC6A2 SLC6A4 SNCA SNCG TPH1 TREM1 XIRP2	1020 104909134 1103 1129 1136 1142 1143 129446 1385 1393 1394 1395 150 1544 1555 1562 1564 1571 1577 1621 18 1812 1813 1816 2353 2354 24145 2558 2624 2668 2823 2824 2876 2878 2908 2932 3350 3356 3557 3569 3570 3725 3897 4684 4747 4803 4804 4842 4880 4886 4887 4915 4986 5074 5320 5354 54210 553 5617 581 5972 60482 627 6530 6532 6622 6623 7166 847 8564 8772 9177	Homo sapiens (human)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABCB1 ACHE ALDH5A1 ALDH7A1 ANK2 ARX ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B3 ATP4B ATP6V0C AZGP1 BCHE BDKRB1 BDKRB2 BMP4 BSN C1QA CACNA1A CACNA1B CACNA1E CACNA2D2 CAMK2D CAPN1 CDK5 CDK5R2 CDYL CHKA CHKB CHL1 CIT CP DEPDC5 DHX9 DYNC1H1 EEF1A1 EEF1A2 ERBB4 ETNK1 ETNK2 FLNA FOS GABRB3 GABRG2 GAD1 GAD2 GAPDH GDNF GRIA1 GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D GRM8 HES1 IL6 ITGA3 ITGA6 ITGA7 KALRN KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7 KCNH1 KCNH2 KCNH5 KCNH6 KCNH7 KCNK17 KCNK18 KCNT1 KCNT2 KIF4A L1CAM LGI1 LRP1 LRP1B MAP4K4 MAPT MIF MINK1 MMP9 NFASC NOS1 NOS2 NOS3 NRCAM NRG1 NUS1 PGF PPIA PRICKLE1 PRICKLE2 PRKG1 RAB3B RAC1 RAC2 RELA RHOG RIPK1 SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SIRT1 SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC13A1 SLC13A3 SLC13A5 SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 SLC24A3 SLC24A4 SLC25A6 SLC6A1 SLCO5A1 STRADA STXBP1 SV2A SYN2 TMTC3 TNF TNIK TRIO UBE3A UNC13A UNC13B	1020 10497 10723 10752 11113 1119 1120 11280 116150 123041 1356 144165 160418 1660 166336 170302 1778 1915 1917 2066 23025 23043 23114 2316 23411 2353 24137 2562 2566 2571 2572 2597 2668 27133 284111 287 2890 2902 2903 2904 2905 2906 2918 293 3084 3280 338567 343450 3569 3655 3675 3679 3736 3737 3738 3739 3743 3744 3756 3757 3897 391 4035 4137 4282 43 4318 476 477 481 482 483 4842 4843 4846 4897 496 501 50488 5228 5243 527 53353 5478 55224 55500 5592 563 57419 57468 57582 5865 5879 5880 590 5970 623 624 6323 6326 6328 6329 6331 6332 6334 6335 6336 64849 6505 6507 6509 6510 6511 6512 652 6529 6557 6558 6559 6560 6561 6812 6854 712 7124 7204 7337 773 774 777 7915 81033 817 81796 823 8737 8927 8941 89822 8997 90134 9211 92335 9254 9425 9448 9681 9900 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ABCB1 ADAMTS1 AGER AKAP12 AKAP1 AKT1 ALOX15 ALOX5 ANGPT1 ANGPT2 ANXA1 APEX1 AQP3 AQP4 AQP5 AQP8 BAD BMP6 BTG2 C3 CASP6 CAST CAT CCL2 CCR5 CDK5 CLU CP CREB1 CSF2RB CSF3 CSPG4 CTSB CTSC CTSL CTSV DBH DPYSL2 DRD2 EDN1 EPOR F2R FAS FASLG FGA GAL GC GFRA1 GLUD1 GLUD2 HIF1A HSPA1B HSPA8 HSPA9 IL17A IL6ST IRAK1 IRAK4 ITGAM KCNK10 KCNK2 KDR LGALS3 LIF LONP1 MAP2 MAPT MDH2 MDK MMP13 MMP14 MMP2 MMP9 MSI1 NES NOS1 NOS3 NPPA NPTXR NR3C1 OPRM1 PAK1 PCNA PGF PLA2G4A PLAT PPP1R15A PRKACB PRKCA PROZ PTGIS PTGS1 PTGS2 RET SCN5A SELE SERPINE1 SLC11A2 SLC29A1 SLC6A1 SLC8A1 SLC8A2 SLC8A3 SOS1 SRC TEK TGFB1 TJP1 TLR4 TNFRSF1A TTR	1020 1075 10763 1191 1234 1356 1385 1439 1440 1464 1508 1514 1515 1621 177 1808 1813 1906 2030 2057 207 2149 2243 23467 23645 240 246 2638 2674 2746 2747 284 285 2908 301 3091 328 3304 3312 3313 343 355 356 3572 360 3605 361 362 3654 3684 3776 3791 3958 3976 4133 4137 4191 4192 4313 4318 4322 4323 4440 4842 4846 4878 4891 4988 5054 5058 51083 5111 51135 5228 5243 5321 5327 54207 5567 5578 572 5740 5742 5743 5979 6331 6347 6401 6529 654 6543 6546 6547 6654 6714 7010 7040 7082 7099 7132 718 7276 7832 8165 831 839 847 8858 9361 9510 9590	Homo sapiens (human)	Alliance of Genome Resources

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