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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 **5826 - 5850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	ACADVL CFC1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP2C19 CYP4F3 FH GLO1 GML HADHA HSD11B2 HSD17B1 HSD17B3 HSD17B6 HSD3B1 HSD3B2 IDS MDH2 OTOA SDHB	146183 1555 1557 1583 1584 1585 1586 1588 1589 2271 2739 2765 3030 3283 3284 3291 3292 3293 3423 37 4051 4191 55997 6390 8630 9469	Homo sapiens (human)
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	PTGS1	5742	Homo sapiens (human)
DOID:8654	Hodgkin's lymphoma, mixed cellularity Aliases: Hodgkin's disease, mixed cellularity	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SLC35B2 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 347734 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)
DOID:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	ABO ACACA ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOX3 ACSL3 ACSL4 ACSM3 ACSS2 ADH1C ADH5 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT1 AKT2 ALDH1A3 ALDH1B1 ALDH3A1 ALDH7A1 ALOX12 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APRT ARSB ARSF ARSG ASAH1 ATF3 ATP6AP2 ATRNL1 B3GAT1 B3GNT2 B3GNT6 B4GALT4 BAAT BST1 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CCDC115 CD109 CD14 CD177 CD1D CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CERS2 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST14 CLEC10A CLGN CMAS CNTN1 COMT CPT1A CPT2 CRYBG1 CRYL1 CTBS CYB5R2 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP4F3 CYP4F8 CYP51A1 CYP7B1 DAG1 DCN DCXR DDOST DEGS1 DGAT1 DGAT2 DGKK DGKZ DHCR24 DHDDS DHDH DHRS11 DLD DLST DPEP1 ECI2 EDEM3 EFNA2 EFNA5 EHHADH ELOVL3 ELOVL5 ELOVL7 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FABP5 FASN FBP1 FBXO44 FCN2 FDFT1 FDPS FH FMOD FUT1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 G6PD GAD1 GAD2 GAL3ST2 GALNS GALNT3 GALNT4 GAPDH GCK GCNT1 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GOLPH3 GPC1 GPC3 GPC5 GPLD1 GPNMB GPX1 GPX2 GPX3 GRHPR GUSB HACD1 HADHA HADHB HAGH HAO1 HAS3 HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD17B12 HSD17B1 HSD17B2 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HSPG2 HYAL1 ICAM1 ICAM5 IDH1 IDH2 IGF2R INPP4B INS ISYNA1 KL KLB KLRB1 KLRG2 KLRK1 L1CAM LARGE2 LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LIPA LPCAT1 LPCAT2 LPIN1 LPIN2 LPL LTA4H LYPD5 LYPLA1 M6PR MAG MAN2A1 MAN2C1 MASP1 MBL2 MCAT MDH2 MGAT1 MGAT4C MGAT5 MGLL MICA MRC1 MTAP MUTYH NAAA NAGK NAGLU NANS NCAM1 NDST2 NDST4 NEU1 NEU2 NEU3 NPL NT5E OGG1 OLR1 OPCML PARP1 PARP2 PARP9 PCK2 PCYT1A PCYT1B PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAM2 PGK1 PI4KA PIGP PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLA2R1 PLAAT3 PLAUR PLB1 PLCG1 PLD1 PLD2 PLPP4 PNLIPRP1 PNP PNPLA2 PPP1R3A PPT1 PRG2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RECK RENBP RGMA RGMB RGN RPN2 SARM1 SCD SDC1 SDHC SELE SFTPA2 SFTPD SHMT1 SHMT2 SIGLEC12 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC2A12 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B4 SLC35G1 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRD5A3 ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC3 ST8SIA4 STS SUCLG2 SULF2 SULT1E1 SULT2B1 TBXAS1 TFF1 TKTL1 TLR2 TM7SF2 TMED3 TMED9 TNF TNFRSF10C TNKS TP53 TUSC3 TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B10 UGT2B11 UGT2B15 UGT2B17 UGT2B28 UGT8 UMPS UNG VCAM1 VCAN XPNPEP2	10038 100507436 1012 10159 10327 10434 10455 10457 10462 1047 1048 10678 10720 10728 10825 10855 1113 11145 1116 1118 1119 11283 113189 11332 11343 120071 120227 126 1272 128 1312 135228 1374 1376 139189 142 1462 1486 151056 152831 154091 1543 1544 1545 1555 1557 1558 1571 1576 1577 1583 1585 1586 1588 1591 1593 159371 1594 1595 1604 1605 1634 1636 1645 1646 1650 1718 1738 1743 1800 1890 192134 1943 1946 196051 1962 202 2023 2026 2053 207 208 2171 218 2181 2182 219 2194 220 2203 2220 2222 2224 2262 2271 22901 22914 22925 22933 23098 23175 2331 23423 23583 23600 23659 239 240 242 246 247 248 249 250 2523 2525 2526 2527 2528 2529 2530 2539 256435 2571 2572 25834 2588 2591 2597 26033 26035 2645 2650 2674 2678 27036 27087 27163 2719 2720 27294 27306 2731 27349 2739 2752 28 2817 2822 284348 285704 2876 2877 2878 2923 2990 29956 3029 3030 3032 3038 307 308 3099 31 310 3157 3158 3161 3251 3283 3284 3290 3292 3293 3294 3295 3339 3373 3383 3417 3418 342372 346689 3482 353 3630 38 3820 3897 3938 3939 3945 3948 3956 3958 3960 3964 3988 4023 4048 4051 4074 4099 411 412 4123 4124 4153 416 4191 4245 4249 427 43 4360 4507 4595 4669 467 4680 4684 47 4758 4759 48 4860 4907 4968 4973 4978 50 501 5106 51084 51144 51181 51227 5130 51302 51477 51478 51548 5160 5167 5168 51700 5209 5210 5223 5224 5230 5287 5290 5291 5293 5294 5297 5310 5311 5313 5315 5319 5320 5321 5329 5335 5337 5338 5407 54187 54363 54490 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 54947 5506 5538 5553 55577 5563 55750 55799 55902 55907 55959 5621 5648 5652 5660 56848 56886 56913 56963 56994 570 57016 57104 57126 5716 57214 5728 5730 5742 5743 5973 60481 60495 6185 6296 6319 6382 6391 6401 64083 64090 6441 64579 6470 6472 6480 6482 6487 6515 6517 6518 6519 6609 6614 6646 6652 6677 6713 6715 6716 6783 6820 683 6916 7031 7087 7097 7108 7124 7157 729238 7355 7365 7366 7367 7368 7372 7374 7412 7512 7903 79154 7941 79644 79888 7991 79947 79993 80142 80267 80896 811 821 8277 8310 83401 83666 8394 8398 8399 84317 8434 84649 847 84912 8509 8525 8560 8630 8644 8658 8693 8694 8702 873 8794 8801 8821 8877 89858 9104 912 9126 9197 9200 9254 929 93611 9365 9380 9420 945 9468 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	CALR CD22 CHIT1 CPT1A FASN FCER2 FCN2 GBA1 GBA2 GNPDA2 GPC1 LGALS9 LIPA NPC1 PIK3CA SMPD1 ST3GAL5 UGCG	1118 132789 1374 2194 2208 2220 2629 2817 3965 3988 4864 5290 57704 6609 7357 811 8869 933	Homo sapiens (human)
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	CYP11A1 FREM1 NEIL1 PAFAH1B1 PRNP	1583 158326 5048 5621 79661	Homo sapiens (human)
DOID:670	amphetamine abuse	ACHE ACSL6 CD55 CDH13 COMT GAD1 GAD2 HS3ST4 LARGE1 NPY1R	1012 1312 1604 23305 2571 2572 43 4886 9215 9951	Homo sapiens (human)
DOID:0110667	congenital myasthenic syndrome 5 Aliases: CMS Ic CMS5 EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome Engel type congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency	ACHE	43	Homo sapiens (human)
DOID:0080161	cutaneous candidiasis	PSAP	5660	Homo sapiens (human)
DOID:3114	serous cystadenocarcinoma Aliases: serous adenocarcinoma serous carcinoma	CEACAM5 CEACAM7 DHCR24 GALNT6 GPX3 NEU1 PTEN PTGS2 TP53 TYMP	1048 1087 11226 1718 1890 2878 4758 5728 5743 7157	Homo sapiens (human)
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 AKT1 AKT2 ALOX5 APRT ATRN B3GAT1 BDH2 BRAF BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS1 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 207 208 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3956 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 673 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:11165	common wart	ADH1C AGA AKR1C1 AMACR ANXA5 B3GNT3 CALR CEMIP CYP1A1 CYP1B1 ENO1 FCN3 G6PD GGT1 GLB1 HPGDS IDUA KLRD1 LPIN1 LYPD5 MBL2 MICA MPG MRC1 MUTYH NT5E OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLCE1 PNPLA2 PRNP PTEN PTGS2 SDC1 SELE SMUG1 STS VTCN1	100507436 10331 126 142 1543 1545 1645 175 2023 23175 23583 23600 23761 2539 2678 2720 27306 284348 308 3425 3824 412 4153 4350 4360 4595 4907 4968 51196 5290 5291 5293 5294 5621 57104 57214 5728 5743 6382 6401 79679 811 8547	Homo sapiens (human)
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)
DOID:1024	leprosy	ACACA ACOT7 AKR1B10 CD14 CD209 CEACAM5 CLEC9A CYP19A1 CYP2E1 FCN1 FCN2 FCN3 GAL3ST4 HSD11B2 IL18R1 IL1RL1 LGALS3 LTA4H MASP2 MBL2 MICA MRC1 NCAM1 NTM PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC4 SDHD SFTPD SIGLEC5 SMPD2 SMPD3 SOAT1 STS TLR1 TLR2 TNF	100507436 1048 10747 11332 1571 1588 2219 2220 283420 30835 31 3291 3958 4048 412 4153 4360 4684 50863 5105 5290 5291 5293 5294 55512 57016 5728 5743 6385 6392 6441 6610 6646 7096 7097 7124 79690 8547 8778 8809 9173 929	Homo sapiens (human)
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ACAT1 ALDH2 ALDOB CAT DPEP1 FBP1 G6PC1 HAS2 HMGCL HPRT1 INS KHK PC PFKM PLA2G7 PNP PRPS1 SLC37A4 UMOD	1800 217 2203 229 2538 2542 3037 3155 3251 3630 3795 38 4860 5091 5213 5631 7369 7941 847	Homo sapiens (human)
DOID:2703	synovitis	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SCD SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6319 6385 6646 7412 960 9663	Homo sapiens (human)
DOID:0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:4012	papillary transitional carcinoma Aliases: Papillary transitional cell carcinoma	AKR1C3 PKM PTEN	5315 5728 8644	Homo sapiens (human)

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