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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 **1651 - 1675** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	CRIM1 GDF6 HCCS LRP5 MAB21L1 MFRP MID1 RBM24 STAU2 TRPM3	221662 27067 3052 392255 4041 4081 4281 51232 80036 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	CTNS LRP2 SLC34A1	1497 4036 6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	CD55	1604	Homo sapiens (human)	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	CYP27B1 FAM20C	1594 56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	CD14 CTLA4 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IFNG IL10 IL21 IL23R IL6 PON1 PON3	149233 1493 2147 29851 3117 3119 3123 3458 3569 3586 5444 5446 59067 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	CLMP INSR LEP LEPR	3643 3952 3953 79827	Homo sapiens (human)	Alliance of Genome Resources
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	APOC3 CCL5 COQ2 HLA-DQA1 HNF1A HSPD1 LEP LEPR PON1 WFS1	27235 3117 3329 345 3952 3953 5444 6352 6927 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	SLC6A19	340024	Homo sapiens (human)	Alliance of Genome Resources
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	ADA2 CCR2 CCR5 IL1RN MMP9 TLR4 TNC	1234 3371 3557 4318 51816 7099 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	AARS1 AARS2 CADM3 FBLN5 FGD3 FIG4 GSTT2B ITPR3 JAG1 MPZ MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 NARS1 NEFL NRG1 PMP22 POLR3B SGPL1 SLC12A6 TNFRSF11B YARS1	10516 16 182 3084 3710 4359 4534 4677 4747 4982 5376 55613 55703 57505 57863 653689 8565 8776 8879 8897 8898 89846 9107 9108 9110 9896 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE ACVR2B ADD1 AGT AKR1C3 ALB APELA ARID1A ATP2B4 C3 CALB1 CCL5 CCN3 CD274 CD40 CD40LG CD46 CHI3L1 CLU COMT CORIN CREBBP CUBN CYP11B2 CYP24A1 CYP27B1 CYP2J2 CYP2R1 DNAH8 EBI3 EDN2 ENG ENTPD1 EPAS1 ERBB2 F2 F2R F3 F5 FAS FASLG FLT1 GATA2 GC GPX1 GPX3 GSN HIF1A HLA-A HLA-DQB1 HNF1A HP HSD11B1 ICAM1 IL1RN IL6 ITGA4 ITGAM ITPR1 ITPR2 ITPR3 KCNN4 LCN2 LEP LEPR MMP2 MMP9 NOS3 NOTCH2 NR1H3 OGG1 PDCD1 PDE5A PEG10 PGF PLAUR PPARG PROC PTGS1 PTPN2 RBP4 ROBO1 ROBO4 RYR1 RYR2 RYR3 SERPINA1 SERPINE1 SERPINF2 SLC2A1 TFPI TIMP1 TLR3 TLR4 TNF TNFRSF1B TRPV5 TRPV6 VEGFA	100506013 10062 10148 10699 1116 118 1191 120227 1312 1387 1573 1585 1591 1594 1636 1769 183 1907 2022 2034 2064 213 2147 2149 2152 2153 23089 2321 2624 2638 2876 2878 29126 2934 3091 3105 3119 3240 3290 3383 355 3557 356 3569 3676 3684 3708 3709 3710 3783 3934 3952 3953 4179 4313 4318 4846 4853 4856 493 4968 5054 5133 5228 5265 5329 5345 54538 5468 55503 5624 56302 5742 5771 5950 6091 6261 6262 6263 6352 6513 6927 7035 7076 7098 7099 7124 7133 718 7422 793 8029 8289 8644 8654 93 953 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:10590	mild pre-eclampsia	GPX3	2878	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:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ABCD1 ABCD2 ABCD3 ACSBG1 ACSBG2 ELOVL1 ELOVL7 MMP2 MMP9 TIMP1	215 225 23205 4313 4318 5825 64834 7076 79993 81616	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 ADGRV1 AIFM1 BCAN CA4 CAT CC2D2A CLRN1 CNGA1 CNGB1 CRB1 CRB2 CWC27 EDN1 EPG5 EYS FDXR FGFR2 GRIN2B GUCY2D HGF HK1 HKDC1 IMPG1 KL MFRP MT1E MT1H MT2A NGF PDE6B POC5 POMGNT1 PRPF3 PRPF4 PRPF8 PRPH2 PRPS1 PTEN RGR RHO RLBP1 SERPINF1 SLC6A6 SNRNP200 SOD1 USH2A VEGFA	10283 10594 1258 1259 134359 1906 2232 2263 23020 23418 24 286204 2904 3000 3082 3098 346007 3617 4493 4496 4502 4803 5158 5176 55624 5631 5728 57545 57724 5961 5995 6010 6017 63827 6533 6647 7399 7401 7422 762 80201 83552 84059 847 9128 9129 9131 9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:10579	leukodystrophy	AARS1 ACER3 CLCN2 EIF2S1 EIF2S2 EIF2S3 SDHA	1181 16 1965 1968 55331 6389 8894	Homo sapiens (human)	Alliance of Genome Resources
DOID:1056	oculocerebrorenal syndrome Aliases: Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe	OCRL	4952	Homo sapiens (human)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	ABL1 ACE ACVR1B ADAR ADGRB1 ADM AKR1B1 ANXA1 APC ARID1A ARPC1B ASPM ATM ATP4B BAMBI BAX BCOR BGN BRCA1 BST2 CALR CASP9 CCL5 CCN3 CD1D CD274 CD8A CDK12 CES1 CHRNA3 COL6A3 CSF1R CTNNB1 CUX1 CXCR4 CYP1A1 CYP2E1 DAXX DDR2 DICER1 DOCK6 EEF1E1 EEF2 EFNB1 EFNB2 EPHB1 ERBB2 ERCC5 ERCC6 EZH2 FGFR2 FGFR4 FOXA1 FOXM1 FUBP1 FUT11 GDA GLDC GPX1 GPX3 GSE1 HDAC2 HLA-DQA1 IDH2 IGFBP3 IL10 IL1RN IL5 IL6 IL6R IL6ST IL7R JAK1 KDM6A KDR KIF18A KMT2C KMT2D KRAS LRP1B LRRN1 MAP3K1 MAP4K4 MKI67 MMP9 MUTYH NBEA NCOA2 NFKB1 NTRK3 NUF2 PARP1 PCNA PDCD1 PIK3CA PTCH1 PTEN PTPN11 RAC1 RGN RICTOR RNF43 RUNX1 RUNX3 SETD2 SGCE SHH SLC7A5 SMO SOD2 SPOP SRC STAT3 STIM1 TBX3 TEP1 TERT TET2 TFF1 TMEM260 TNFRSF11A TP53 TTR UBR5 XPO1 XRCC1	10095 103 10499 1066 1136 1293 133 142 1436 1499 1523 1543 1571 1616 1636 170384 1938 1947 1948 2047 2064 2073 2074 2146 2263 2264 2305 231 23199 23405 25 253260 25805 259266 26960 2731 2876 2878 29072 29126 301 3066 3117 3169 324 3418 3486 3557 3567 3569 3570 3572 3575 3586 3716 3791 3845 4214 4288 4318 4595 472 4790 4856 4916 4921 496 5111 5133 51366 51755 5290 53353 54790 54880 54894 54916 5727 5728 575 57572 57633 5781 581 58508 5879 633 6352 6469 6608 6648 6714 672 6774 6786 684 6926 7011 7015 7031 7157 7276 7403 7514 7515 7852 8085 811 8140 81930 8289 83540 8405 842 861 864 8792 8880 8910 91 9104 912 925 9448 9521 9615	Homo sapiens (human)	Alliance of Genome Resources
DOID:10533	viral pneumonia	CCL11 TLR9	54106 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ACHE CD14 EDNRB ERBB2 GDNF GFRA1 IHH ITGB1 KIT NGFR NTRK1 PINK1 RET SHH SLC2A1 STX1A WNT8B	1910 2064 2668 2674 3549 3688 3815 43 4804 4914 5979 6469 65018 6513 6804 7479 929	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:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:10460	nasopharyngitis Aliases: chronic nasopharyngitis	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:10459	common cold Aliases: Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis	ALOX5 CX3CL1 IFNA2 IL10 IL1A IL1RN TSLP	240 3440 3552 3557 3586 6376 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	MBL2 TLR5	4153 7100	Homo sapiens (human)	Alliance of Genome Resources

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