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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 **776 - 800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:870	neuropathy Aliases: peripheral neuropathy	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:574	peripheral nervous system disease	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10127	cerebral artery occlusion	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3523	brain stem infarction Aliases: Brainstem infarction	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)	DisGeNET
DOID:3355	fibrosarcoma Aliases: Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm	ACE AKR1A1 AKR1B1 ANXA5 APRT CD44 CHST3 DLD EBP GLB1 GLO1 GPI HK1 HPRT1 HSPG2 ICAM1 IDH1 KLRK1 MMP25 MTAP NAMPT PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTEN PTGES3 PTGS2 RECK SDC1 SDC2 SIGLEC7 SLC26A2 SMPD1 STS	10135 10327 10682 10728 142 1636 1738 1836 22914 231 27036 2720 2739 2821 308 3098 3251 3339 3383 3417 353 412 4507 5091 5290 5291 5293 5294 5660 5728 5743 6382 6383 64386 6609 8434 9469 960	Homo sapiens (human)	DisGeNET
DOID:3516	adult fibrosarcoma	ACE AKR1A1 AKR1B1 ANXA5 APRT CD44 CHST3 DLD EBP GLB1 GLO1 GPI HK1 HPRT1 HSPG2 IDH1 MMP25 MTAP NAMPT PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTGES3 PTGS2 SDC1 SDC2 SIGLEC7 SMPD1 STS	10135 10327 10682 10728 142 1636 1738 231 27036 2720 2739 2821 308 3098 3251 3339 3417 353 412 4507 5091 5290 5291 5293 5294 5660 5743 6382 6383 64386 6609 9469 960	Homo sapiens (human)	DisGeNET
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ACE ACHE ACSBG1 ACSBG2 ADH1C ADH5 AKR1A1 AKR1B1 ALDH2 ALDH7A1 APRT ARSB CD14 CD1D CD38 CD44 CH25H CHAT CHI3L1 CHIT1 CHKB CHST3 COLGALT1 COMT CPT1B CYP1A2 CYP21A2 CYP2B6 CYP2C9 CYP2E1 CYP3A4 CYP4F2 DLAT EBP ECHS1 ELOVL1 ELOVL7 EPM2A FUT1 G6PD GAD2 GALNT14 GGT1 GLB1 GLUL GPAT2 GPC5 HADH HADHB HPGDS HS6ST3 HSD11B1 HSD17B4 HSPG2 ICAM1 IDH2 IDS IDUA L1CAM LPIN1 MAG MBL2 MBOAT2 MBOAT7 MDGA2 MGAT1 MGLL NAMPT NCAM1 NCAN NDST3 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLB1 PNPLA3 PRKAA2 PRNP PTEN RTN4R SGSH SIRT6 SLC17A5 SLC27A5 SPHK1 SPHK2 ST8SIA4 SUMF1	10135 10327 10682 10998 1103 1116 1118 1120 11343 126 128 129642 1312 1375 142 1463 150763 151056 1544 1555 1559 1571 1576 1589 161357 1636 1737 1892 217 2262 22925 231 23175 23205 2523 2539 2572 26503 266722 2678 2720 27306 2752 285362 3032 3033 3290 3295 3339 3383 3418 3423 3425 353 3897 4099 411 4153 4245 43 4684 501 51548 5290 5291 5293 5294 5563 5621 56848 5728 60506 6448 64834 65078 7903 79143 7957 79623 79709 79993 80339 81616 8529 8877 9023 912 929 9348 9469 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	CAT CD44 CHI3L1 CYP2J2 IL1RL1 MBL2 NAMPT SFTPA1 SFTPA2 SFTPC SFTPD TLR2 TLR6 TNF	10135 10333 1116 1573 4153 6440 6441 653509 7097 7124 729238 847 9173 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	ACAN AMACR ANXA5 APRT CD44 CDS1 CHI3L1 CSPG4 DCN EFNA5 EXT1 EXT2 GLB1 GPC3 HS3ST1 HSPG2 ICAM1 IDH1 IDH2 LDHA MTAP NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTEN PTGS2 SDC2 SFTPC SLC2A10 SMUG1 SPHK2 TM7SF2 TUSC3 VCAM1 VCAN	10135 1040 1116 142 1462 1464 1634 176 1946 2131 2132 23583 23600 2719 2720 308 3339 3383 3417 3418 353 3939 4507 5290 5291 5293 5294 5563 5621 56848 5728 5743 6383 6440 7108 7412 7991 81031 960 9957	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ALOX5 ARSD CAT CD14 CD44 CD55 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DGKA DHCR24 DPM2 EPHX2 FCN2 FUT3 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LEP LGALS3 LPCAT1 LTC4S MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTEN PTGS1 PTGS2 RECK RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TNF TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1604 1606 1634 1636 1718 2053 2220 231 23583 240 2525 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3952 3958 4056 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5728 5742 5743 5973 6440 6441 653509 6609 7108 7124 7167 729238 7368 7941 79888 81031 83666 8398 8399 8434 847 8818 929 9365 9468 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ARSD CAT CD14 CD44 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DPM2 EPHX2 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LGALS3 LPCAT1 MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTGS2 RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1634 1636 2053 231 23583 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3958 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5743 5973 6440 6441 653509 6609 7108 7167 729238 7368 7941 79888 81031 83666 8398 8399 847 8818 929 9365 9468 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPP APRT ATRNL1 CALR CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHST2 CLEC10A CNTFR CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN3 FIG4 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GOT1 GPNMB GPX3 GPX7 GSK3A GSK3B HADHA HEXA HK1 HPGDS IGF2R IL18R1 INPP5B KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PPARGC1A PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10891 10908 1113 1116 1117 1118 11343 117145 1271 128 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 22933 23098 23236 23583 240 246 250 2597 26033 26035 2629 2674 27036 27306 2752 2805 2878 2882 2923 2931 2932 3030 3073 3098 3482 353 3633 39 3956 3957 3958 3960 4190 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ACE AKT1 ALOX15 ALOX5 APEX1 BAD CAT CSPG4 CYP19A1 ENO2 FCN1 G6PD GCDH GFRA1 GPNMB GPX1 ICAM1 IL6ST LGALS1 LGALS3 MBL2 MDH2 NAMPT PARP1 PCNA PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PRNP PTGIS PTGS1 PTGS2 SELE SLC33A1 TLR4	10135 10457 142 1464 1588 1636 2026 207 2219 240 246 2539 2639 2674 283871 2876 328 3383 3572 3956 3958 4153 4191 5111 5290 5291 5293 5294 5321 5373 5621 572 5740 5742 5743 6401 7099 847 9197	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:850	lung disease	ABO ACE ACLY ACOD1 ALDH2 ALDH7A1 ALOX5 APEX1 ARSA ATP6V0A2 BST1 CALR CAT CD14 CD1D CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CEL CHGA CHI3L1 CHIT1 CNTN2 CYP1A1 CYP27B1 CYP2C9 DCN DGKA DHCR24 DLD ENO1 ENO2 FCN2 FUT3 GLA GOLPH3 GPX1 GPX3 HMMR HPGDS ICAM1 IGF2R IL18R1 IL1RL1 ISYNA1 LDHC LGALS3 LGALS9 LTC4S MBL2 NAMPT NTM PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB3 PTEN PTGS1 PTGS2 RECK RENBP RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SMUG1 SPHK2 TLR2 TLR4 TNF VCAN	10135 1048 1056 1087 10998 1113 1116 1118 1462 1543 1559 1594 1604 1606 1634 1636 1718 1738 2023 2026 217 2220 23545 23583 240 2525 2717 27306 28 2876 2878 3161 328 3383 3482 3948 3958 3965 4056 410 4153 4680 47 501 50863 51477 5290 5291 5293 5294 5320 5331 56848 56963 5728 5742 5743 5973 64083 6440 6441 653509 683 6900 7097 7099 7124 729238 730249 811 83666 8434 847 8809 912 9173 929 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	ABO ACOT7 ACSS2 ALG9 AMACR APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 DPEP1 ENO2 FH GFRA1 GM2A GPC3 HPSE IDH2 ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHA SDHB SDHC SDHD SELL SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 1800 2026 2271 22854 23583 23600 23659 2674 27087 2719 2760 28 3418 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6389 6390 6391 6392 6402 6713 7108 79796 811 945 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	ABO ACOT7 ACSS2 ALG9 APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 ENO2 GFRA1 HPSE ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHB SDHC SDHD SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 2026 22854 23583 23659 2674 27087 28 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6390 6391 6392 6713 7108 79796 811 945 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	ABO ACSS2 AMACR ASAH1 B3GAT1 CD248 CD38 CEACAM5 CHGA CYP2C8 ENO2 GAPDH HMMR HPRT1 KLRK1 LDHA MRC1 MTAP NAMPT NCAM1 NPL PAFAH1B1 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SMUG1 XYLT2	10135 1048 1113 142 1558 2026 22914 23583 23600 23659 2597 27087 28 283871 3161 3251 3939 427 4360 4507 4684 5048 5290 5291 5293 5294 55902 57124 5728 5743 64132 80896 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	ACE ACHE ACOT7 AGPAT2 ALDH2 ALDH7A1 ALOX5 ANXA5 APRT ARSA CD14 CD177 CHI3L1 CHPT1 CHST13 CHST3 COG1 CPT1A CPT2 CS CYP19A1 CYP1A1 CYP1B1 CYP2C9 DCN EFNA1 ENO1 EOGT EPHX2 FIG4 G6PC3 G6PD GBA1 GLB1 GPI HAS1 HAS2 HAS3 HK1 HPGDS HSPG2 HYAL1 HYAL2 ICAM1 IDUA IL18R1 IMPA1 KL LGALS1 LGALS3 LIPA MCAT MRC1 NAAA NAMPT PARP1 PCYT1A PDIA3 PFKFB3 PIGA PIGN PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G7 PLCD4 PRKAA2 PTEN PTGIS PTGS1 PTGS2 SELP SFTPA2 SFTPC SLC2A4 SLC37A4 SLC3A1 SMPD3 SPHK1 SULT1E1 TM7SF2 VCAM1	10135 10555 1116 11332 1374 1376 142 1431 1543 1545 1559 1588 1634 1636 166012 1942 2023 2053 217 23556 240 2539 2542 2629 27163 2720 27306 27349 2821 285203 2923 3036 3037 3038 308 3098 3339 3373 3383 3425 353 3612 3956 3958 3988 410 43 4360 501 5130 5209 5277 5289 5290 5291 5293 5294 5315 5321 55512 5563 56994 57126 5728 5740 5742 5743 6403 6440 6517 6519 6783 7108 729238 7412 7941 84812 8692 8809 8877 92579 929 9365 9382 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ACACA ACAN ACE ADIPOQ ADRB3 AGPAT2 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ANXA5 APRT ARSD BAAT CAT CD44 CHST3 COMT CPT1A CPT2 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP2B6 CYP2R1 CYP51A1 DCN DHCR7 DHRS11 ENPP1 FADS1 FADS2 FBXO44 FUT7 G6PC1 GGT1 GPX1 GPX3 GYS2 H6PD HACD1 HAS1 HAS2 HAS3 HMMR HPGDS HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 ICAM1 IL1R1 ISYNA1 ITLN1 LALBA LCT LGALS3 LPCAT2 LPIN1 LPL MANEA MELTF MGAT5B MIOX MPG NAMPT NANS NEIL2 PAFAH1B1 PAPSS2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLAUR PNPLA2 PNPLA3 PPT1 PRKAA2 PTEN PTGS2 RENBP SCD SFTPC SLC2A4 SLC33A1 SLC35G1 SLC37A4 SRD5A1 SRD5A2 STS SULT1E1 VCAM1 VCAN	10135 10555 120227 1312 1374 1376 1462 146664 1543 1545 155 1555 1583 1584 1586 1588 1589 159371 1595 1634 1636 1645 1646 1717 176 208 220 231 23175 2529 252969 2538 2542 2678 27306 2876 2878 2998 3036 3037 3038 308 31 3161 3283 3284 3290 3291 3292 3294 3295 3383 353 3554 3906 3938 3958 3992 4023 412 414 4241 4350 5048 51477 51478 5167 5290 5291 5293 5294 5310 5329 54187 54947 5538 55586 55600 5563 570 57104 5728 5743 5973 6319 6440 6517 6715 6716 6783 7412 79154 7941 79694 80339 847 8630 8644 9060 9197 9200 93611 9370 9415 9469 9563 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12987	agranulocytosis Aliases: Granulocytopenic disorder Granulopenia granulocytopenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050590	severe congenital neutropenia	ABO ACE AGA B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCG GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 KCNJ11 L1CAM LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPARGC1A PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 10891 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2641 2645 26503 2678 279 28 283871 3099 3290 3291 3383 353 3554 3636 3767 3897 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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