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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 **6326 - 6350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ABO ACE ADH1B AGK AKR1B10 ALDH2 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARSA ART1 BDH2 BST2 CACNA2D2 CACNA2D3 CALR CD209 CD38 CD44 CD93 CDH13 CEL CLC CPT1A CYB5R2 CYP2E1 DHCR24 EFNA2 ENO1 FASN FCER2 FH FOLR1 GALC GALNT7 GFPT1 GGT1 GPX1 GPX2 GUSB HPGDS HPSE ICAM1 INPP4B KLRK1 LDHA LGALS1 LGALS9 LYPD5 MAPK14 MICA MLYCD MMUT MRC1 MTAP OGG1 OPCML PARP1 PFKFB3 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G6 PLA2G7 PLAAT3 PLB1 PLCD3 PNPLA2 PRKAA2 PTEN PTGS2 RECK RPN2 RTN4R RTN4RL1 SDC1 SELP SIRT2 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SRGN TIGAR TKT TKTL1 TM7SF2 TP53 TYMP UGT2B17 VCAM1	100507436 1012 1056 10855 11145 113026 1178 125 128869 1374 142 1432 146760 151056 1571 1636 1718 1890 1943 2023 217 2194 2208 2271 22914 22918 22933 23417 2348 23583 23600 248 250 2581 2673 2678 27306 28 284348 2876 2877 2990 308 30835 310 3383 353 3939 3956 3965 410 417 4360 4507 4594 4968 4978 51548 51700 51809 5209 5290 5291 5293 5294 5315 5319 5552 5563 55750 55799 56898 57016 57103 57104 5728 5743 6185 6382 6403 65078 6609 6646 684 7086 7108 7157 7367 7412 7941 811 8277 8398 8434 8821 8877 9254 952 960	Homo sapiens (human)
DOID:4310	smooth muscle tumor	CD44 FH LGALS3 SMUG1	2271 23583 3958 960	Homo sapiens (human)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 DHTKD1 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 55526 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0070331	mitochondrial DNA depletion syndrome 8b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related	TYMP	1890	Homo sapiens (human)
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:10175	optic papillitis Aliases: papillitis	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:0060587	Noonan syndrome 9 Aliases: NS9	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:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	ACE ACSM3 ALOX12 AMY1A AMY1B AMY1C ARSD ARSI B3GAT1 CALR CANX CAT CHPT1 CNTN3 COMT CPT1B DBT GAD1 GPX1 ICAM1 IDS LYZ MAN2C1 MPI PDIA3 PPP1R3B PPP1R3C PTGDS PTGS2 SMUG1 SRD5A2 TNFRSF10C UGCG VCAM1	1312 1375 1629 1636 23583 239 2571 27087 276 277 278 2876 2923 3383 340075 3423 4069 4123 414 4351 5067 5507 56994 5730 5743 6296 6716 7357 7412 79660 811 821 847 8794	Homo sapiens (human)
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	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:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	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:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	CAT CYP21A2 ENO1 GTDC1 LGALS1 LYZ SLC37A4 VCAM1	1589 2023 2542 3956 4069 7412 79712 847	Homo sapiens (human)
DOID:3454	brain infarction	ACE ADIPOQ ALDH2 CACNA2D1 CAT CHI3L1 CYP11B1 CYP11B2 CYP2R1 DLD GPLD1 GPNMB ICAM1 IGF2 LPL PARG PLD1 PLD2 SACM1L STS TBXAS1 TNF VCAM1	10457 1116 120227 1584 1585 1636 1738 217 22908 2822 3383 3481 4023 412 5337 5338 6916 7124 7412 781 847 8505 9370	Homo sapiens (human)
DOID:3753	Hermansky-Pudlak syndrome	CHI3L1 LGALS3 PI4K2A SFTPA1 SFTPC SLC35D3	1116 340146 3958 55361 6440 653509	Homo sapiens (human)
DOID:0110108	atrial heart septal defect 3 Aliases: ASD3 atrial septal defect 3	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	ELOVL4 ELOVL5	60481 6785	Homo sapiens (human)
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:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	GAD1 HSD3B1 HSD3B2 LPL SRD5A1 SRD5A2	2571 3283 3284 4023 6715 6716	Homo sapiens (human)
DOID:0110502	autosomal recessive nonsyndromic deafness 45 Aliases: DFNB45 autosomal recessive deafness 45	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:0110480	autosomal recessive nonsyndromic deafness 22 Aliases: DFNB22 autosomal recessive deafness 22	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:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)
DOID:0080046	Stickler syndrome	CEACAM5 CEACAM6 COL9A2 PTGS2 TECTA	1048 1298 4680 5743 7007	Homo sapiens (human)
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)
DOID:9976	heroin dependence	ABAT ADH1B ALDH2 COMT CYP2B6 CYP2C19 ENO2 GAD1 GAD2 HPGDS ICAM1 MDH2 NCAM1 NPY1R PARP9 PIK3CA PIK3CB PIK3CD PIK3CG RGMA	125 1312 1555 1557 18 2026 217 2571 2572 27306 3383 4191 4684 4886 5290 5291 5293 5294 56963 83666	Homo sapiens (human)
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)
DOID:9088	parapsoriasis	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)

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