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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **126 - 150** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	ABCB1 ACE ADIPOQ ALB ALDH2 ALX4 APC APOC3 ARID1A ARID2 ASS1 BMI1 CALR CAT CBX4 CCL2 CCL5 CDH1 CDK13 CEP164 CLPTM1L CSF1R CTLA4 CTNNB1 CYP2C19 CYP2E1 DICER1 EFTUD2 EGF ERBB4 ERN1 EZH2 FGFR1 FGFR2 FLT3 FOXA1 FUBP1 G6PC1 GC GPX1 GPX3 HAVCR2 HFE HILPDA HLA-DPA1 HLA-DQA1 HLA-DQB1 HNF1A HNRNPAB HRAS IFNA2 IFNL1 IGF1R IGF2 IGF2R IL10 IL12A IL21 IL2 IL6 JAK1 KDM6A KDR KIF1B KIR3DS1 KLF4 KMT2B LEP LEPR LRP1B MAP4K4 MBL2 MCM7 MDM2 MET MPO MTDH MYD88 NFE2L2 NFKB1 NRAS PDCD1 PDGFRL PIK3CA PINX1 PLCG1 PNPLA3 PPARA PRDM1 PTGS2 PTPN13 RECQL RNF43 RYR3 SF3B1 SF3B4 SLC38A1 SLC7A5 SMARCA4 SMC3 SMO SNRPE SOAT2 SOD2 SOX30 SPAG9 SPOCK1 SPOP SPP1 SRSF2 STAT4 TEP1 TERT TET2 TLR2 TLR4 TLR9 TNF TP53 TRAF7 TYMS VEGFA WNT2 XPO1 XPO5 XRCC1 ZFHX3	10262 11063 1436 1493 1499 1557 1571 1636 1950 196528 2066 2081 213 2146 217 2260 2263 22897 23095 2322 23405 23451 2538 2638 282618 2876 2878 29923 3077 3113 3117 3119 3169 3182 324 3265 3440 345 3480 3481 3482 3558 3569 3586 3592 3716 3791 3813 3952 3953 4153 4176 4193 4233 4353 445 4615 463 4780 4790 4893 5133 5157 5243 5290 5335 53353 54106 5465 54790 54894 54984 5743 57510 5783 59067 5965 60529 6263 6347 6352 639 6427 648 6597 6608 6635 6648 6695 6696 6775 6927 7011 7015 7097 7099 7124 7157 7298 7403 7422 7472 7514 7515 80339 81037 811 8140 81539 8289 8405 84231 8435 847 84868 8535 8621 8880 9043 9126 92140 9314 9343 9370 9448 9757 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:5768	Nager acrofacial dysostosis Aliases: AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis	SF3B4	10262	Homo sapiens (human)	Alliance of Genome Resources
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABCC8 ABO ACE2 ACE ADD1 ADD2 ADRA1A ADRB1 ADRB2 ADRB3 AGT AGTR1 ALDH2 ANGPT1 ATP1A2 AVPR1A BDKRB1 BDKRB2 BRCA1 CACNB2 CCR5 CD14 CHGA CLCNKB CLU COL6A3 COMT CORIN CYP11B2 CYP2C9 CYP2J2 CYP2R1 CYP4A11 DBH DRD1 DRD2 ECE1 EDN1 EDN2 EDNRA EPHX2 F11R F7 FTO GCK GLCE GNAS GPX3 HGF HLA-DQA1 HP HSD11B1 HSD11B2 HSD3B1 HTR2A IL1RN IL6 INPPL1 INVS ITGA9 KCNMB1 KDR KLK1 LEP LEPR LOX LPL MMP1 MMP2 MMP9 MOV10 MTR NOS2 NOS3 NPHP3 NPPB NPPC NPR3 OGG1 PON1 PPARG PRLHR PTGIS PTPRD RAMP2 REN SLC6A2 SLC8A1 SOD1 SOD2 TNF TRHR UCP2 VEGFA WNK1 XRCC1	10266 10699 1113 118 1188 119 1191 120227 1234 1293 1312 148 153 154 155 1559 1573 1579 1585 1621 1636 1812 1813 183 185 1889 1906 1907 1909 2053 2155 217 26035 2645 27031 27130 2778 28 2834 284 2878 3082 3117 3240 3283 3290 3291 3356 3557 3569 3636 3680 3779 3791 3816 3952 3953 4015 4023 4312 4313 4318 4343 4548 477 4843 4846 4879 4880 4883 4968 50848 5444 5468 552 5740 5789 59272 5972 623 624 65125 6530 6546 6647 6648 672 6833 7124 7201 7351 7422 7515 783 79068 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080238	autosomal dominant intellectual developmental disorder 47 Aliases: autosomal dominant mental retardation 47	STAG1	10274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	Slc6a8	102857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Frem1 Gata4 Lrp1 Ndst1 Nr2f2 Pdgfra Pls3 Slit3	102866 11819 14463 15531 16971 18595 20564 329872	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11476	osteoporosis	Ifngr1 Pls3 Tnfrsf11b Tnfsf11	102866 15979 18383 21943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	SPEG	10290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070005	Seckel syndrome 9 Aliases: SCKL9	TRAIP	10293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	ADRA2A APBB1 APC2 CCK CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNB3 CHRNB4 COMT CYP2B6 DRD2 DRD4 FIGNL1 GABBR1 GABBR2 GALR1 GRIN2B HTR1B HTR2A HTR3A IL1RN LCP1 NCAM1 NPY1R NR3C1 NRG1 NRXN3 NTRK2 OPRM1 POMC RAPGEF3 RPTOR SLC6A3 TPH1	10297 10411 1136 1137 1138 1142 1143 1312 150 1555 1813 1815 2550 2587 2904 2908 3084 322 3351 3356 3359 3557 3936 4684 4886 4915 4988 5443 57521 63979 6531 7166 885 8973 9369 9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090131	complex cortical dysplasia with other brain malformations Aliases: CDCBM	APC2 CAMSAP1	10297 157922	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081218	autosomal recessive intellectual developmental disorder 74	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112104	Sotos syndrome 3 Aliases: SOTOS3	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ABCB11 ABCB4 ACE ADAR C5 CCL5 CENPC DRD4 F5 FGFR4 HFE HLA-DPA1 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICAM1 IFNA2 IFNG IGF1R IL10 KIR3DS1 KRT18 KRT8 MBL2 MPO PHKG2 PNPLA3 PTGS2 SERPINA1 SERPINE1 SLC6A4 SOD2 SPAG9 TFPI TLR3 VASH1 XRCC1	103 1060 1636 1815 2153 2264 22846 3077 3113 3117 3119 3123 3383 3440 3458 3480 3586 3813 3856 3875 4153 4353 5054 5244 5261 5265 5743 6352 6532 6648 7035 7098 727 7515 80339 8647 9043	Homo sapiens (human)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	ADAR FGFR3 HLA-DPB1 HLA-DRB1	103 2261 3115 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ADAR	103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112236	lissencephaly 6 Aliases: LIS6	KATNB1	10300	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ABL1 AKT1 ALX4 APC ARID2 ATM BAMBI BAX BCOR BRCA1 BUB1 BUB1B CASP9 CES1 CHD4 CHEK2 CTNNB1 CTNNBL1 CYP24A1 CYP2E1 DCC DDR2 DDX3X DICER1 DLC1 EGFR EP300 ERBB4 ERCC6 EZH2 F7 FAT1 FGFR3 FLCN GALNT12 GPX1 GRIN2A HFE HILPDA HLA-DQB1 HNF1A IKZF1 IL6 ITPKC JAK1 KDM6A KDR KRAS LRP1B MAP2K4 MAPK9 MKI67 MLH1 MSH2 MYD88 NRAS NTRK3 PDGFRL PIK3CA PIK3CD PLA2G2A POLE PTPN12 PTPN13 PTPRJ PTPRT RAC1 RBM10 RNF43 SEPTIN9 SETD2 SPOP SRC STIM1 TCF3 TGFB2 TGFBR1 TLR2 TNFAIP3 TP53 XPO1 XPO5 XRCC1 YTHDF1	10320 10395 1066 10801 1108 11122 11200 1499 1571 1591 1630 1654 1956 196528 201163 2033 2066 207 2074 2146 2155 2195 2261 23405 25 25805 2876 2903 29072 29923 3077 3119 324 3569 3716 3791 3845 4288 4292 4436 4615 472 4893 4916 4921 5157 5290 5293 5320 53353 5426 54880 54894 54915 5601 56259 57510 5782 5783 5795 581 5879 60529 6416 6714 672 6786 6927 6929 699 701 7042 7046 7097 7128 7157 7403 7514 7515 79695 80271 8241 8405 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	ABL1 AKR1C3 BRD2 CYP3A5 F3 IKZF1 TFPI TNFSF13 TP53	10320 1577 2152 25 6046 7035 7157 8644 8741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081155	common variable immunodeficiency 13	IKZF1	10320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110929	nemaline myopathy 9 Aliases: NEM9	KLHL41	10324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050598	extrapulmonary tuberculosis	CD209 CLEC4M EREG	10332 2069 30835	Homo sapiens (human)	Alliance of Genome Resources

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