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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 **15576 - 15600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0081340	congenital myopathy 2C	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080685	aortic dissection	ACTA1 EFEMP2 EPHB1 NONO SPP1	2047 30008 4841 58 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:10486	intestinal atresia	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 FGF10 FGFR2	2255 2263 345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 ANO1 HLA-A RNF213	3105 345651 55107 57674 58 59 60 70 71	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:0050567	orofacial cleft	ACSS2 CRISPLD2 LOXHD1 MYH9 SPECC1L	125336 23384 4627 55902 83716	Homo sapiens (human)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	ACSS2 CPT1A ESR1 GAPDH GLS MMP9 NOS3 RICTOR SRF STAT1 STAT3 TSC1 TSC2	1374 2099 253260 2597 2744 4318 4846 55902 6722 6772 6774 7248 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:11981	morbid obesity Aliases: Severe obesity	ACSS2 AGER CCK CPE CTNNBL1 CYP2E1 GHRL HIF1A IL1RN LPIN1 MC4R MCHR1 NPPB NPY2R NTRK2	1363 1571 177 23175 2847 3091 3557 4160 4879 4887 4915 51738 55902 56259 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:9282	ocular hypertension	ACSM3 APOA1 C3 CRYAA FAS GLI1 MMP1 MMP2 MMP9 MYOC OPA1 SHH SMO SOD1 TPI1	1409 2735 335 355 4312 4313 4318 4653 4976 6296 6469 6608 6647 7167 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	ACSM3 ADD1 AGTR1 ATP1B1 CAT CDK7 CYP3A5 ECE1 ELN FGFR2 FTO HAVCR1 HSD11B1 LCN2 NOS3 NPPB NPR2 PTGIS PTPN1 RARRES2 RBP4 REN SLC12A3	1022 118 1577 185 1889 2006 2263 26762 3290 3934 481 4846 4879 4882 5740 5770 5919 5950 5972 6296 6559 79068 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5 PLVAP WNT2B	51703 7482 83483	Homo sapiens (human)	Alliance of Genome Resources
DOID:1059	intellectual disability	ACSL4 AGTR2 ANK2 ARHGEF6 ATF7IP2 ATF7IP ATP6V0C ATRX BOD1 BOD1L1 BORCS8-MEF2B CAPN3 CASR CC2D1A CC2D2A CDK13 CDKL5 CHKB CNTNAP2 CUL4B DMD DRD4 DYRK1A EIF4A3 ELP2 GATAD2A GATAD2B GPI GPM6A GPM6B HIVEP2 HPN IL1RAPL1 IMPA1 IRS1 IRS2 IRS4 ITGA2B ITGA5 ITGA8 ITGAV ITSN2 KANSL1 KDM5B KRAS MEF2A MEF2B MEF2C MEF2D NAA15 NAA16 NDST1 NDST2 NDST3 NDST4 NONO NSUN2 PLP1 POGZ PRSS12 PSMB1 PUS7 RB1 RBL2 RPGRIP1L RPS6KA3 RYK SARS1 SFN SLC6A8 SMC3 TSC1 UBE3A UBR4 WDR62 YWHAQ YWHAZ ZC3H14 ZNF280B ZNF280D	100271849 10765 10971 11141 1120 140883 1756 1815 1859 186 2182 23126 23322 23352 259282 26047 2810 2821 2823 2824 284058 284403 287 3097 3249 3340 3612 3667 3674 3678 3685 3845 4205 4207 4208 4209 4841 50618 527 5354 54517 546 54815 54816 54862 54888 55250 55729 5689 57459 57545 5925 5934 6197 6259 6301 64579 6535 6792 7248 7337 7534 79612 79882 80063 80155 825 8450 846 8471 8492 8509 8516 8621 8660 9126 91272 9348 9459 9775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALX4 ARX CSTF2 FTSJ1 IQSEC2 THADA ZMYM3	1478 170302 2181 2182 23096 24140 60529 63892 9203	Homo sapiens (human)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2	218 2181 2182 221 222 224	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:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	ACP5	54	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080953	amelogenesis imperfecta type 1J Aliases: Amelogenesis imperfecta, type IJ	ACP4	93650	Homo sapiens (human)	Alliance of Genome Resources
DOID:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	ACP3 ACSL3 AFP AGAP2 AGER AKR1C3 AKT1 AKT2 AKT3 ALOX12 ANXA7 APC AR ATF3 AZGP1 BAX BMP2 BMP6 BMP7 BRCA1 BRCA2 CADM1 CBX5 CCNE2 CD44 CD55 CD82 CDC25A CDC25B CDH13 CDH1 CDK13 CHAF1B CHD1 CHD2 CHEK2 CHGA CHUK COMT CTNNA1 CTNNB1 CXCR4 CYP17A1 CYP1A1 CYP51A1 DAXX DNMT1 E2F1 E2F2 EEF2 EGFR EIF3H ELAC2 ENG ENO2 EP300 EPHB1 ERBB2 ERBB3 ERBB4 ESR1 EZH2 FABP5 FAS FGF7 FGFR1 FGFR2 FGFR4 FLT3 FOXO1 FOXO3 GOLM1 GRB2 GRP HDLBP HIF1A HLA-DRB1 HNRNPK HRAS ICAM1 IGF1R IGFBP3 IKBKB IL16 INHA INS JAK1 JUP KDM3A KDM4C KDM5B KDM6A KLK10 KLK13 KLK4 KLK6 KMT2A KMT2B KMT2C KMT2D KMT2E KRAS LEF1 MAGT1 MAP3K7 MAPK7 MEP1A MEP1B MMP13 MMP15 MMP2 MSH2 MSR1 MTOR MUC1 MXI1 MYC MYO6 NBN NCOA1 NCOA2 NCOA3 NCOA4 NFKB1 NOS3 NRAS OGG1 P4HA3 PDGFRB PDPK1 PEBP1 PHF8 PHLPP1 PIK3CB PLAU PNLIPRP1 POLE PON1 PREX1 PRPF8 PTEN PTGS2 PTK2 RAF1 RB1 RBL2 RNASEL SETD5 SETDB1 SIRT1 SKP2 SLCO1B3 SMARCA2 SMARCA4 SNRPE SOS1 SRC SRD5A1 SRD5A2 SREBF2 STAT3 STAT5A STAT6 SULT2A1 TCF3 TERT TFF1 TFF2 TFRC TGFB1 TGFBR2 THBS1 TIMP3 TLR2 TMEFF2 TNF TOP2A TP53 TUSC3 VDAC1 VEGFA WIF1 WNT2 XIAP XRCC1 ZFHX3	10000 1012 10499 10594 10765 1105 1106 1113 11197 11200 1147 116986 1312 1495 1499 1543 1586 1595 1604 1616 174 177 1786 1869 1870 1938 1956 2022 2026 2033 2047 2064 2065 2066 207 208 2099 2146 2171 2181 2252 2260 2263 2264 2308 23081 2309 23133 2322 23239 23411 23468 23671 23705 239 2475 26085 28234 283208 2885 2922 3069 3091 310 3123 3190 324 3265 331 3383 3480 3486 355 3551 3603 3623 3630 367 3716 3728 3732 3845 4224 4225 4297 4313 4322 4324 4436 4481 4582 4601 4609 463 4646 467 4683 4790 4846 4893 4968 5037 51176 51280 5159 5170 5291 5328 5407 5426 5444 55 55209 55818 55904 5598 563 5653 5655 5728 5743 5747 57580 581 58508 5894 5925 5934 6041 60528 650 6502 654 655 6595 6597 6635 6654 6714 6715 6716 672 6721 675 6774 6776 6778 6822 6885 6929 7015 7031 7032 7037 7040 7048 7057 7078 7097 7124 7153 7157 7403 7416 7422 7472 7515 7852 7991 8031 8085 8202 8208 84061 8621 8644 8648 8667 9134 960 9622 9757 9869 993 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)	Alliance of Genome Resources

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