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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 **6151 - 6175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	ACE ARSD CFC1 CLEC1B DHCR7 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG	1636 1717 414 51266 5130 5290 5291 5293 5294 55997	Homo sapiens (human)
DOID:0060321	umbilical hernia	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	854163	Saccharomyces cerevisiae S288C
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	aldob	321664	Danio rerio (zebrafish)
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	mtap	393526	Danio rerio (zebrafish)
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	ELOVL4 ELOVL5	60481 6785	Homo sapiens (human)
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	ACACA ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	R12E2.11 umps-1	172008 176453	Caenorhabditis elegans
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	ACE CLEC5A CYP1A1 GALC SELE TNF	1543 1636 23601 2581 6401 7124	Homo sapiens (human)
DOID:4926	bronchiolo-alveolar adenocarcinoma Aliases: Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma	Trp53	22059	Mus musculus (house mouse)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT DLD GALNS UMOD	1738 2588 353 7369	Homo sapiens (human)
DOID:869	cholesteatoma	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	83516	Rattus norvegicus (Norway rat)
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	ACAN ACE ALDOA CD14 CD74 CYP17A1 ENO1 ENPP1 FCGR3B KL KLRB1 KLRK1 MBL2 MICA PTGS2 SFTPA2 SOAT1 VCAN	100507436 1462 1586 1636 176 2023 2215 226 22914 3820 4153 5167 5743 6646 729238 929 9365 972	Homo sapiens (human)
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:9470	bacterial meningitis	ACHE CD14 CHI3L1 ENO2 GALNS ICAM1 LTA4H MBL2 OGG1 PARP1	1116 142 2026 2588 3383 4048 4153 43 4968 929	Homo sapiens (human)
DOID:9351	diabetes mellitus Aliases: diabetes	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 GTB1 ROT2	851807 852530 854233	Saccharomyces cerevisiae S288C
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	ALPI ALPP B3GAT1 CACNA2D1 CD44 HK2 HSPG2 ICAM1 IDH1 LIPG MBD4 MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PTEN SDHD SULF2 TNFRSF10C TPI1	100507436 142 248 250 27087 3099 3339 3383 3417 5290 5291 5293 5294 5332 55959 5728 6392 7167 781 8794 8930 9388 960	Homo sapiens (human)
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	xylt1	560951	Danio rerio (zebrafish)
DOID:9277	primary cerebellar degeneration	CEACAM5 FASN GAD1 HSD17B4 IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PRNP PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 2571 3295 3418 4360 51763 5290 5621 5728 5743 7412 8930 9536	Homo sapiens (human)
DOID:2527	nephrosis	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALPL APRT ARSA ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP11A1 CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP3A5 DCN DDOST DGKE ELOVL5 ENO1 ENO2 ENPP1 FADS2 FAR2 FMOD G6PC1 G6PD GAD1 GAD2 GAS1 GCK GFPT1 GLA GLO1 GPX1 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LCAT LGALS3 LIPC LYZ MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 OGA PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SELE SELL SFTPD SGPL1 SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SOAT1 SORD STS SULT1E1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 1462 1497 151056 1555 1557 1558 1559 1571 1577 1583 1588 1591 1594 1634 1636 1650 2023 2026 2180 22908 22925 231 2331 23417 239 249 2538 2539 2542 2571 2572 2619 2645 26503 2673 2717 27293 2739 28 2876 2878 29071 3037 3038 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3958 3990 4069 410 412 4153 4191 4669 4684 5048 5067 5091 51548 5167 5290 5291 5293 5294 5310 5311 5320 5329 5563 55711 56052 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6401 6402 64131 64132 6441 6514 6523 6614 6646 6652 6783 7108 7367 7369 7412 78989 79679 811 847 8526 8879 9104 9197 9365 9415 9536	Homo sapiens (human)
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	PMT2 PMT3 PMT6	851210 853113 854499	Saccharomyces cerevisiae S288C
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	akt1.S	399170	Xenopus laevis (African clawed frog)

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