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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 **1951 - 1975** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)
DOID:13934	facial paralysis Aliases: Facial Palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:1393	visual pathway disease	ACO2 AGXT CYP1B1 INPP5E PMM2 PRPS1 PTEN	1545 189 50 5373 5631 56623 5728	Homo sapiens (human)
DOID:13924	necrotizing ulcerative gingivitis Aliases: ANUG Angina - Vincents Vincent angina Vincent's angina Vincent's angina - pharyngitis Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivostomatitis acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis acute ulceromembranous gingivitis early acute necrotising gingivitis trench mouth	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:13918	somatization disorder Aliases: Briquet's disorder Somatisation disorder	ACE COMT	1312 1636	Homo sapiens (human)
DOID:13912	acquired color blindness Aliases: acquired color vision deficiencies acquired color vision deficiency acquired colour blindness acquired colour vision deficiencies acquired colour vision deficiency	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:13911	achromatopsia Aliases: ACHM Monochromatism	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:13910	red color blindness Aliases: Protan defect Protanopia	ACO2 CA4 CACNA2D4 CD74 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A PKD1 SDHC STS	2539 412 50 5130 5310 60506 6391 6785 762 8930 93589 9394 972	Homo sapiens (human)
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	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:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	ACE ACO2 ARSA CA4 CACNA2D4 CEL CHAT ELOVL4 FCGR3B G6PD GLDC HS6ST1 IL18R1 MBD4 NYX PARP9 PCYT1A SDHC SLC27A5 STS	1056 10998 1103 1636 2215 2539 2731 410 412 50 5130 60506 6391 6785 762 83666 8809 8930 93589 9394	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	COG2 EFNA5 PLA2G7	1946 22796 7941	Homo sapiens (human)
DOID:139	squamous cell papilloma Aliases: Epidermoid papilloma	ALDH3A2 AMACR ARSF B3GAT1 CALR CAT CEACAM5 DCN EBP GLB1 GOLPH3 ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PTEN PTGES PTGS2 SDC1 SDHB SDHC SDHD ST8SIA4 STS TM7SF2 XYLT2	1048 10682 1634 224 23600 27087 2720 3383 412 416 5290 5291 5293 5294 5310 5321 5728 5743 6382 6390 6391 6392 64083 64132 7108 7903 811 847 9536	Homo sapiens (human)
DOID:1389	polyneuropathy	ACACA ACE ACOT7 AGRN AKR1A1 AKR1B1 APRT ARSA B3GAT1 CANX CAT CD14 CD55 CHAT CHIT1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP2C8 CYP2U1 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ENO2 FIG4 FUCA1 GAD1 GCK GFRA1 GFRA2 GLA GPX1 HADHA HADHB HPGDS IDH1 IDH2 IGF2R LPIN1 LTC4S LYZ MAG MGLL MTM1 MTMR2 NAMPT NCAN NGLY1 NT5E NTNG1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SGPL1 SLC2A4 SPTLC1 SPTLC3 ST3GAL4 TKT TPI1 TYMP	10135 10327 10558 10908 1103 1118 11332 11343 113612 126129 1272 1312 1463 1558 1577 1586 1588 1604 1605 1636 1890 2026 22854 22934 23098 231 23175 2517 2571 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 31 3417 3418 3482 353 375790 4056 4069 4099 410 4534 4860 4907 5238 5290 5291 5293 5294 5373 55304 55768 5621 5631 5660 5728 5740 6342 6484 6517 7086 7167 821 84649 847 8560 8879 8898 9104 929 9420 9896	Homo sapiens (human)
DOID:13884	sick sinus syndrome Aliases: sinus node infection	ACADM ACE ACOT7 ALDH2 ALG10 ALG10B APRT CACNA2D1 CACNA2D2 CALR CAT CD38 CHI3L1 CHPT1 CPT1A CPT2 CYP19A1 EPHX2 GLA GPC3 GPD1L GYG1 HACD1 HADHA HADHB HJV HSPG2 ICAM1 IDS ITPKB LGALS3 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PRKAA2 PTGS2 SCD SELP SIGLEC7 SLC33A1 SMUG1 SQLE UGCG VCAM1	1116 11332 1374 1376 144245 148738 151056 1588 1636 2053 217 23171 23583 27036 2717 2719 2992 3030 3032 3339 3383 34 3423 353 3707 3958 5095 5096 5130 5236 5290 5291 5293 5294 5563 56994 5743 6319 6403 6713 7357 7412 781 811 847 84920 9197 9200 9254 952	Homo sapiens (human)
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	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:13868	hypoactive sexual desire disorder Aliases: Lack or loss of sexual desire	CYP17A1	1586	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:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACE ACSL4 ALG12 ALG8 ARSD ART3 B3GLCT CD14 CD44 CEACAM6 CHST15 CLEC7A COMT CRYBG1 CYP19A1 CYP1B1 CYP2C19 CYP2C9 CYP4F2 CYP4F3 DHCR24 DPM1 ENO1 FASN G6PC3 GLB1 GPC3 IDH1 INPP5E LGALS1 LGALS3 LGALS9 MASP1 MBL2 MSLN NAMPT NTNG1 PARP1 PDHX PIGN PIGQ PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTEN PTGES PTGIS PTGS2 RECK SMPD2 STS TALDO1 TFAP2B TKT UMPS	10135 10232 1312 142 145173 151056 1545 1557 1559 1588 1636 1718 202 2023 2182 2194 22854 23556 2719 2720 3417 3956 3958 3965 4051 412 414 4153 419 4680 51363 51604 5290 5291 5293 5294 5648 56623 5728 5740 5743 64581 6610 6888 7021 7086 7372 79053 79087 8050 8434 8529 8813 9091 92579 929 9536 960	Homo sapiens (human)
DOID:13819	lymphogranuloma venereum Aliases: Climatic or tropical bubo Durand-Nicolas-Favre disease Lymphogranuloma inguinale Poradenitis inguinale Strumous bubo	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	SDC1	6382	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ACE ALPL CHIT1 CYP7A1 LCAT LIPC LPL LYPLA2 PNPLA2 SCD SELP SIGLEC7	1118 11313 1581 1636 249 27036 3931 3990 4023 57104 6319 6403	Homo sapiens (human)

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