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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 **276 - 300** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:987	alopecia	ABO ACAT1 ACE ACER1 AGA AGXT AKR1C4 ALOX12B ATP6V0A2 CERS3 CYP17A1 CYP19A1 CYP27B1 DCN DGAT1 EBP EOGT FADS2 FAR2 FUT3 HPGDS HSD11B1 HSD3B1 ICAM1 KDSR KLRK1 LSS PARP1 PCYT1A PLCD1 PNPLA6 PRNP PRSS8 PTGDS PTGS2 SHMT1 SOAT1 SRD5A1 SRD5A2 ST3GAL4 STS VCAN	10682 10908 1109 125981 142 1462 1586 1588 1594 1634 1636 175 189 204219 22914 23545 242 2525 2531 27306 28 285203 3283 3290 3383 38 4047 412 5130 5333 55711 5621 5652 5730 5743 6470 6484 6646 6715 6716 8694 9415	Homo sapiens (human)
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	ABO ACACA ACADL ACADS ACADVL ACE ACSL1 ADPRH AGK AGL AGPAT2 ALDH2 ALDH7A1 ALG1 ALOX12 ALPP APRT ARSB ARSD ATP6V1A ATRN ATRNL1 CALR3 CALR CAT CBR1 CBR3 CHST3 CNTN3 COG7 CPT1A CPT2 CS CYP11B2 CYP1A1 CYP27B1 CYP2C19 CYP2C9 CYP2E1 DAG1 DCN DLD DPM3 ECHS1 FASN FIG4 FKRP FKTN FUT4 G6PD GAA GAPDH GBE1 GK GLA GLB1 GMPPB GNE GNPTAB GPC3 GPX3 GUSB GYG1 GYS1 HADH HADHA HADHB HAS3 HJV HPGDS HPSE ICAM1 IDH2 IDUA IGF2R IL1RL1 KL LARGE1 LDHA LGALS3 LPL MASP2 MBL2 MCAT MGAM MGAT1 MLYCD MMUT MTMR14 NAGA NAMPT NEU1 OLR1 PARP1 PCCA PCCB PDHA1 PGK1 PGM1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G7 PMM2 PNPLA2 POMGNT1 POMK POMT1 PRKAA2 PTEN PTGS2 RGN SCD5 SCD SDHA SDHB SDHD SGSH SI SIRT4 SLC2A10 SLC33A1 SLC5A1 SMUG1 SORD ST3GAL4 SUCLG1 SULT1E1 TPI1	10020 10135 10555 10585 10747 10855 125972 1374 1376 141 142 1431 148738 1543 1557 1559 1571 1585 1594 1605 1634 1636 1738 178 1892 200576 217 2180 2194 2218 23409 23417 23583 239 250 2526 2539 2548 2597 26033 2632 2710 2717 2719 2720 27306 27349 28 2878 2990 2992 29925 2997 3030 3032 3033 3038 31 33 3383 3418 3425 3482 35 353 37 3939 3958 4023 411 414 4153 4245 4594 4668 4758 4973 501 5067 5095 5096 5160 523 5230 5236 5289 5290 5291 5293 5294 5310 5373 54344 55624 5563 55750 56052 57104 5728 5743 6319 6389 6390 6392 64419 6448 6476 6484 6523 6652 6783 7167 79147 79158 7941 79966 81031 811 84197 8455 847 873 874 8802 8972 9104 9173 91949 9197 9215 9365 9469 9896	Homo sapiens (human)
DOID:1134	gingival recession Aliases: Gingival recession, localized localized gingival recession minimal gingival recession moderate gingival recession severe gingival recession	FIG4 LCT	3938 9896	Homo sapiens (human)
DOID:0050765	neuroacanthocytosis	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	ACSBG1 ADH1C ALDH2 ARSA B3GALT4 CAT COMT FH GALC GAPDH GBA1 GLA KL NTM OGG1 PAFAH1B1 PLA2G6 PSAP PTGDS PTGS2 SARM1 SLC17A5 SMPD1 ST3GAL2 VCAM1	126 1312 217 2271 23098 23205 2581 2597 2629 26503 2717 410 4968 5048 50863 5660 5730 5743 6483 6609 7412 8398 847 8705 9365	Homo sapiens (human)
DOID:1085	Edwards syndrome Aliases: Complete trisomy 18 syndrome E3 Trisomy trisomy 18	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	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 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACACA ACAN ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2E1 DCN FUT4 GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 MTAP NTHL1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SIGLEC7 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN VTCN1	10327 125 126 128 131 1462 1543 1545 1555 1557 1571 1634 1636 176 217 23583 23659 2526 2597 27036 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4507 4913 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5728 5743 6515 6783 79679 847 8473 8821 929 960	Homo sapiens (human)
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CLEC7A CYP2C19	1557 64581	Homo sapiens (human)
DOID:10864	partial third-nerve palsy Aliases: Partial third nerve palsy Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial	ACSM3	6296	Homo sapiens (human)
DOID:3660	wheat allergy Aliases: allergy to wheat wheat allergic reaction	ENPP3 HACD1	5169 9200	Homo sapiens (human)
DOID:12387	nephrogenic diabetes insipidus	ATP6AP2 CANX G6PD L1CAM PRKAA2 PTGS2	10159 2539 3897 5563 5743 821	Homo sapiens (human)
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:14793	hypohidrotic ectodermal dysplasia	ACACA CD38 DHCR7 G6PD GOLPH3 LYZ PGK1 PTGS2 SLC17A5	1717 2539 26503 31 4069 5230 5743 64083 952	Homo sapiens (human)
DOID:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)
DOID:0110514	autosomal recessive nonsyndromic deafness 62 Aliases: DFNB62 autosomal recessive deafness 62	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)
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	CAT COMT LGALS3 NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG TLR2	1312 3958 4913 5290 5291 5293 5294 7097 847	Homo sapiens (human)
DOID:0080149	adult acute monocytic leukemia	PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 VCAM1	5290 5291 5293 5294 5321 5563 7412	Homo sapiens (human)
DOID:1156	chondrocalcinosis Aliases: calcium pyrophosphate deposition disease pseudogout	ACE ALPL ANXA5 CD44 CYP19A1 ENPP1 GALNT3 HSPG2 KL PTGS2	1588 1636 249 2591 308 3339 5167 5743 9365 960	Homo sapiens (human)
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)
DOID:6084	childhood ovarian germ cell tumor Aliases: paediatric Ovarian germ cell neoplasm paediatric ovarian germ cell tumour pediatric Ovarian germ cell neoplasm pediatric ovarian germ cell tumor	PTEN	5728	Homo sapiens (human)
DOID:0110850	xeroderma pigmentosum group B Aliases: XP group B XPB XPBC	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)

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