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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:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)
DOID:0060402	chromosome 17p13.1 deletion syndrome	ALPP ATRNL1 CD33 CD38 COMT CYP2B6 FCN2 OCRL PAFAH1B1 PIGA PIGN PLCB1 PLCE1 PLCG1 PTEN SLC17A5	1312 1555 2220 23236 23556 250 26033 26503 4952 5048 51196 5277 5335 5728 945 952	Homo sapiens (human)
DOID:5479	papillary adenofibroma	PIK3CA	5290	Homo sapiens (human)
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	COL9A2 G6PD IDH1 IDH2 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 3417 3418 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:5418	schizoaffective disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)
DOID:6195	conjunctivitis	ART4 CD14 IMPA1 LGALS1 MBL2 PLD3	23646 3612 3956 4153 420 929	Homo sapiens (human)
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	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:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	ALOX12B STS	242 412	Homo sapiens (human)
DOID:0060397	chromosome 15q26-qter deletion syndrome Aliases: 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:8618	oral cavity cancer Aliases: malignant neoplasm of floor of mouth	ADH1B CYP1A1 CYP2E1 PIK3CA PTEN	125 1543 1571 5290 5728	Homo sapiens (human)
DOID:0080221	obsolete major affective disorder 2	ABO ACE COMT DGKH GAD1 IMPA2 INPP1 NCAM1 NPL PFKL PGP PIP4K2A PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 28 283871 3613 3628 4684 5211 5305 5319 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	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:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	ICAM1 VCAM1	3383 7412	Homo sapiens (human)
DOID:0110543	autosomal dominant nonsyndromic deafness 11 Aliases: DFNA11 autosomal dominant deafness 11	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:0110746	type 1 diabetes mellitus 7 Aliases: IDDM7 Insulin-Dependent Diabetes Mellitus 7	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	AKR1B1 ALG9 CYP51A1 G6PD GALE GALK1 GALM GALT GK GP2 LGALS1 MGAT1 SLC2A2 UGP2 UGT8	130589 1595 231 2539 2582 2584 2592 2710 2813 3956 4245 6514 7360 7368 79796	Homo sapiens (human)
DOID:12385	shigellosis Aliases: Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery	ATP6AP2 BCKDHA CD248 CD48 CLEC7A CTSA GUSB HSD17B6 LYZ SFTPA1 ST8SIA2	10159 2990 4069 5476 57124 593 64581 653509 8128 8630 962	Homo sapiens (human)
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)
DOID:5746	ovarian serous cystadenocarcinoma Aliases: serous cystadenoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ACACA ACADSB ACAT1 ACE ACHE ACLY ACOX1 ACSL3 ACSL5 ADIPOQ AGL AKR1B1 ALOX5 ALPP APRT ARSA ATRNL1 CAT CD38 CD44 CDH13 CEL CPT1A CPT2 CYB5R3 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP51A1 CYP7A1 DGAT1 DLD FASN FCGR3B FCN1 FDFT1 G6PC1 G6PD GALNT2 GFPT1 GGT1 GLA GLB1 GPIHBP1 GYS2 HADHB HSD11B1 HSPG2 INPP5F KL KLB KLRK1 LCAT LEP LGALS3 LIPA LIPC LPL LYZ NAMPT NEIL1 OLR1 PC PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 PLB1 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS1 PTGS2 RGN SDC1 SDC2 SELP SLC17A5 SLC2A4 SLC37A4 SOAT1 SOAT2 ST3GAL4 VCAM1	1012 10135 1056 1374 1376 151056 152831 1543 1545 1555 1557 1559 1571 1581 1588 1593 1595 1636 1727 1738 178 2181 2194 2215 2219 2222 22876 22914 231 240 250 2538 2539 2542 2590 26033 26503 2673 2678 2717 2720 2998 3032 31 3290 3339 338328 353 36 38 3931 3952 3958 3988 3990 4023 4069 410 43 47 4973 5091 51 51703 5288 5290 5291 5293 5294 5320 5563 57104 5728 5742 5743 6382 6383 6403 6484 6517 6646 7412 7941 79661 80339 8399 8435 847 8694 9104 9365 9370 952 960	Homo sapiens (human)
DOID:1040	chronic lymphocytic leukemia Aliases: B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia	ABO ACE ACSBG1 AKR1C4 ALDH7A1 ANXA5 ANXA7 APRT ARSD ARSH B3GAT1 B4GALNT1 BST1 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CHST11 CLEC12A CLEC17A COG1 COLEC10 CSPG4 CYP1A1 CYP2B6 CYP2C9 DCN ENO1 FASN FCER2 FCGR3B FH FKRP FMOD G6PD GALNS GALNT11 GLB1 GPLD1 GUSB HAS1 HK1 HMMR HPGDS HPSE2 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL18RAP IL1RL1 INPPL1 ISYNA1 LGALS1 LGALS3 LGALS9 LPIN1 LPL MBL2 MCAT MGAT5 MRC1 NDUFAB1 NT5E PARP1 PARP9 PCYT1A PGM3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PLCG2 PNP PTEN PTGS2 RENBP SDC1 SDHB SELL SI SIGLEC6 SIGLEC7 SIRT2 SLC2A4 SLC35B2 SMUG1 SULT1E1 TIGAR TNFRSF10C UGT2B17 VCAM1	10584 1109 142 1464 1543 1555 1559 160364 1604 1634 1636 2023 2194 2208 2215 2271 22933 23175 23205 2331 23583 2539 2583 2588 27036 27087 2720 27306 27349 28 2822 2990 3036 308 3098 310 3161 3339 3383 3417 3418 3425 347527 347734 353 3636 388512 3956 3958 3965 4023 414 4153 4249 4360 4706 4860 4907 501 50515 5130 51477 5238 5287 5290 5291 5293 5294 5335 5336 57103 5728 5743 5973 60495 6382 6390 63917 6402 6476 6517 6783 683 7367 7412 79147 811 83666 8794 8807 8809 912 9173 929 933 9382 945 946 952 960 972	Homo sapiens (human)
DOID:0080540	galactosialidosis	CTSA GLB1 HPRT1 NEU1	2720 3251 4758 5476	Homo sapiens (human)
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	ACE AKT1 ARSA CD14 CHGA CHI3L1 CYP2C19 ICAM1 IL18R1 LGALS3 MBL2 PARP1 PLA2G1B PLB1 PTEN PTGS2 SELP SULT1E1	1113 1116 142 151056 1557 1636 207 3383 3958 410 4153 5319 5728 5743 6403 6783 8809 929	Homo sapiens (human)

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