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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3376 - 3400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	COL9A2 G6PD PC PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5091 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LPL	4023	Homo sapiens (human)	DisGeNET
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	AMT CD38 DCXR EBP G6PD GAD1 SACM1L SMUG1	10682 22908 23583 2539 2571 275 51181 952	Homo sapiens (human)	DisGeNET
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	CLEC7A DCN GALNS GBE1 ICAM1 IDH1 IDH2 NCAM1 OCRL OGT PGM3 PIGL PIK3CA PIK3CB PIK3CD	1634 2588 2632 3383 3417 3418 4684 4952 5238 5290 5291 5293 64581 8473 9487	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ACAN AMACR ANXA5 APRT CD44 CDS1 CHI3L1 CSPG4 DCN EFNA5 EXT1 EXT2 GLB1 GPC3 HS3ST1 HSPG2 ICAM1 IDH1 IDH2 LDHA MTAP NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTEN PTGS2 SDC2 SFTPC SLC2A10 SMUG1 SPHK2 TM7SF2 TUSC3 VCAM1 VCAN	10135 1040 1116 142 1462 1464 1634 176 1946 2131 2132 23583 23600 2719 2720 308 3339 3383 3417 3418 353 3939 4507 5290 5291 5293 5294 5563 5621 56848 5728 5743 6383 6440 7108 7412 7991 81031 960 9957	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)	DisGeNET
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110535	autosomal recessive nonsyndromic deafness 9 Aliases: DFNB9 NRSD9 autosomal recessive deafness 9 neurosensory nonsyndromic recessive deafness 9	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	ACE ALDH3A2 ALOX12B AMY2B ARSA CERS3 DGAT1 DOLK EBP ELOVL3 ELOVL4 GBA1 HS6ST1 HSD17B6 LPIN2 MPDU1 MSMO1 PIGL PNPLA2 PNPLA6 SGPL1 SRD5A3 STS SULT2B1 SUMF1	10682 10908 1636 204219 224 22845 242 2629 280 285362 410 412 57104 6307 6785 6820 79644 83401 8630 8694 8879 9394 9487 9526 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2645	benign mesothelioma Aliases: benign tumor of Mesothelium	ACACA AKR1C1 AKR1C2 AKR1C3 ALOX12 ALOX15 ALOX5 ANXA4 APRT BST1 CALR CAT CD14 CD44 CD74 CEACAM5 CEACAM7 CSPG4 CYP19A1 CYP1A1 DLD FCN2 FOLR1 FOLR2 FUT4 GLB1 GPC1 GPC3 GPI HPGDS HPSE ICAM1 ICAM2 IDUA ITLN1 KLRK1 L1CAM LGALS3 LGALS9 MRC1 MSLN MTAP MTMR4 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTEN PTGS2 SDC1 SDC2 SIGLEC7 SLC26A2 SMUG1 SPHK1 TBXAS1 TM7SF2 TNFRSF10C TYMP VCAM1 VCAN	10232 1048 10855 1087 142 1462 1464 151056 1543 1588 1645 1646 1738 1836 1890 2220 22914 2348 2350 23583 239 240 246 2526 27036 2719 2720 27306 2817 2821 307 31 3383 3384 3425 353 3897 3958 3965 4360 4507 4907 5290 5291 5293 5294 5321 55600 5728 5743 6382 6383 683 6916 7108 7412 811 847 8644 8794 8877 9110 929 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	MLYCD	23417	Homo sapiens (human)	DisGeNET
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	CBR1 PTGS2	5743 873	Homo sapiens (human)	DisGeNET
DOID:4404	occupational dermatitis Aliases: Occupational allergic contact dermatitis Occupational eczema	AKR1B10 AKR1C2 CD44 CYP1A1 CYP1B1 G6PD GLB1 UGT1A1 UGT1A6	1543 1545 1646 2539 2720 54578 54658 57016 960	Homo sapiens (human)	DisGeNET
DOID:0110468	autosomal recessive nonsyndromic deafness 13 Aliases: DFNB13 autosomal recessive deafness 13	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:14177	congenital hypogammaglobulinemia Aliases: Congenital hypogammaglobulinaemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)	DisGeNET
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:5823	childhood lymphoma Aliases: pediatric lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALPI ALPP ANXA5 CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C VCAM1 VTCN1	10462 1056 10998 1113 1312 1543 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 65078 6515 6646 6783 6900 7355 7412 7957 79679 83666 847 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)	DisGeNET
DOID:9240	erythromelalgia Aliases: erythermalgia	GLA PGP PTGS1	2717 283871 5742	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:322	myelitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)	DisGeNET
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	ACE AGK AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 55750 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)	DisGeNET DisGeNET

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