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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 **12451 - 12475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	DES LDB3	11155 1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	DEPDC5 NPRL3	8131 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources
DOID:9505	cannabis abuse Aliases: marijuana abuse	BCHE COMT DRD4 NGF NRG1	1312 1815 3084 4803 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:10247	pleurisy	ALOX5 ANXA1 BDKRB1 BDKRB2 CCL11 CSF3 ELANE ESR1 ICAM1 IL15 IL17A IL1RN NOS2 PLA2G6 PTAFR PTGS2 SERPINE1 TNF	1440 1991 2099 240 301 3383 3557 3600 3605 4843 5054 5724 5743 623 624 6356 7124 8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	ADGRB1 AKT3 CXCR4 E2F1 HRG JAK1 MAP2K1 MAPK9 NFKB1 PLAT RAC1 RAF1 VEGFC	10000 1869 3273 3716 4790 5327 5601 5604 575 5879 5894 7424 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	DOT1L LMNA LMNB1 LMNB2	4000 4001 84444 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	CSF3R ELANE HAX1	10456 1441 1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:5485	synovial sarcoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:11994	atrophy of testis	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	ST14	6768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	HYAL1	3373	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	SPINT2	10653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	MOSMO POLR3E UQCRC2	55718 730094 7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	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:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABCA1 ABCC6 ACAT2 ACE ADIPOQ ADRB3 AGER AGTR1 AHSG APOA1 APOA2 APOA5 APOB APOC3 APOE APOM ARHGAP31 BCHE BRINP3 BTNL2 C1orf167 CBS CCL2 CCR1 CCR2 CCR5 CD14 CD40LG CDH5 CHI3L1 CLCN6 CLU CPE CUBN CYP2R1 ECE1 EDN1 ENG EPHX2 ESR1 F2 F7 FCGR2A FCGR3A FGB FTO GCK GP6 GPX1 GPX3 HFE HGF HMGCR HNF1A HP HSD11B1 HSPD1 IL10 IL15 IL1RL1 IL6 IRS1 ITGA2 KALRN KL LDLR LEPR LIPC LIPG LOX LPA LPL LRP8 LTA LUM MAP3K7 MLXIPL MMP12 MMP1 MMP3 MMP9 MYLK NAMPT NGF NGFR NOD2 NOS2 NOS3 NPPA NR1H3 NR3C1 OGG1 OLR1 PAPPA PECAM1 PLA2G7 PNPLA3 PON1 PON2 PPARA PPARG PTPN1 PTPRD RBP4 SELE SERPINA1 SERPINE1 SERPINF2 SLC2A4 SOAT2 SOD1 SOD3 SPP1 SREBF1 SREBF2 TEK THBD TLL1 TLR4 TNF TNFRSF11B TNFRSF1A TNNI3 TP53 TTN VEGFA VIM VTN XRCC1	1003 10062 10135 1116 116519 1185 1191 120227 1230 1234 1363 155 1636 177 185 1889 19 1906 197 2022 2053 2099 2147 2155 2212 2214 2244 2645 284498 2876 2878 2908 3077 3082 3156 3240 3290 3329 335 336 338 339479 345 348 3569 3586 3600 3667 3673 368 39 3949 3953 3990 4015 4018 4023 4049 4060 4312 4314 4318 4321 4638 4803 4804 4843 4846 4878 4968 4973 4982 5054 5069 51085 51206 5175 5265 5345 5444 5445 5465 5468 55937 56244 57514 5770 5789 590 5950 6347 6401 64127 6517 6647 6649 6696 6720 6721 6885 6927 7010 7056 7092 7099 7124 7132 7137 7157 7273 729230 7422 7431 7448 7515 7804 79068 7941 8029 80339 8435 875 8997 9173 929 9365 9370 9388 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	SCNN1B SCNN1G	6338 6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ABCE1 ADAM28 AKR1A1 ALX4 APOC3 ATRX AZGP1 BTK CADM1 CALR CBX5 CD44 CDC73 CDH1 CHD4 CHRNA3 CHRNA5 CHRNB4 CLPTM1L COL10A1 CSF1R CXCR4 CYP24A1 DLL4 E2F1 EEF2 EGF EGFR EHMT2 ERBB2 ERBB3 ERBB4 ERCC6 ERGIC3 ESCO2 EZH2 FAS FGF9 FGFR4 FOXA1 FOXP1 FUBP1 GPX3 HSP90B1 IDH1 IDH2 IGF2R IKZF1 IL1R2 KMT2C KRAS LRP1B MAP2K1 MAP4K4 MKI67 MSH2 MUC1 MUC4 MYC NOTCH1 NUF2 PLCG1 PLOD2 PRDM1 PTCH1 PTPN13 PTPRB PTPRJ RARB RBM10 RNF43 RUNX1 SDC1 SERPINA3 SETD2 SLC1A5 SLC3A2 SLC7A5 SNRPB SNRPE SOX30 SPOP SRC TERT TIMP3 UBR5 XPO1 XRCC1 ZFHX3	10320 10327 10863 10919 11063 1108 1136 1138 1143 12 1300 1436 157570 1591 1869 1938 1950 1956 2064 2065 2066 2074 2146 2254 2264 23468 23705 27086 2878 29072 3169 3417 3418 345 3482 355 3845 4288 4436 4582 4585 4609 463 4851 51366 51614 5335 53353 5352 54567 546 54894 5604 563 5727 5783 5787 5795 58508 5915 60529 6059 6382 639 6510 6520 6628 6635 6714 695 7015 7078 7184 7514 7515 7850 7852 79577 81037 811 8140 8241 83540 8405 861 8880 9448 960 999	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:0111989	immunodeficiency 35 Aliases: IMD35 TYK2 deficiency autosomal recessiv HIES with atypical mycobacteriosis autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis susceptibility to infection due to TYK2 deficiency tyrosine kinase 2 deficiency	TYK2	7297	Homo sapiens (human)	Alliance of Genome Resources
DOID:9743	diabetic neuropathy	AKR1B1 ALDH2 BAD BDKRB1 BDNF CCL5 CD63 CNR1 EPO F7 FTO GGT1 GHRL HGF HHIP IFNG IGF1R INSR INSRR LRRK2 MAPK14 MBP MPZ NGF NGFR NRG1 NTRK1 PGF PLAT PTGS2 SORD SREBF1 TGFB1 TGFB2 TGFB3 TLR4 TNF TRPA1 UCP2 UCP3 VCAM1 VEGFA	120892 1268 1432 2056 2155 217 231 2678 3082 3084 3458 3480 3643 3645 4155 4359 4803 4804 4914 51738 5228 5327 572 5743 623 627 6352 64399 6652 6720 7040 7042 7043 7099 7124 7351 7352 7412 7422 79068 8989 967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111783	otopalatodigital syndrome type 1 Aliases: OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources

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