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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 **1 - 25** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110508	autosomal recessive nonsyndromic deafness 51 Aliases: DFNB51 autosomal recessive deafness 51	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:1936	atherosclerosis	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACER2 ACHE ACLY ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 ADIPOQ AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALT1 CACNA2D4 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CLEC1B CLEC4E CLEC5A CLEC6A CLEC7A CLEC9A CNTN3 COLEC12 COMT CPT2 CSGALNACT2 CTBS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLD DPEP2 DPEP3 EBP EFNA5 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT7 FUT8 GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GCK GGT1 GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB H6PD HACD4 HAS2 HAS3 HJV HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LDHA LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LYPLA1 LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PARP15 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PEMT PFKL PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G12A PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD3 PLCG1 PLPP3 PNP PNPLA2 PNPLA3 PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 RBP4 RENBP RPN1 SCD SCP2 SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS1 SGMS2 SGPL1 SI SIGLEC1 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A3 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TM7SF2 TPI1 TYMP UGT1A1 UGT1A6 UMOD VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10434 10555 10559 1056 10682 10715 10724 10728 10855 1113 1116 1118 113026 11332 11343 120227 124 125 126 128 1312 1376 139189 142 144423 1462 1486 148738 151056 1543 1544 1545 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 165631 166929 1717 1718 1738 176 189 1890 1946 2053 2137 217 2180 2215 2220 2224 22914 22933 231 23171 2331 23409 2350 23545 23583 23601 23659 239 240 247 249 2525 2529 2530 2571 2590 2591 259230 26253 26279 2645 26503 2678 2683 27087 27163 27180 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 3037 3038 308 31 32 3290 3339 3383 338328 339221 340075 340485 3418 3482 35 353 3556 3635 3705 38 39 3931 3939 3957 3958 3988 3990 3992 3998 401494 4023 4047 4048 4069 4099 410 411 412 414 4153 43 432 4326 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5067 5091 51266 5130 51477 51548 5167 51763 51809 5211 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5335 54187 54578 54658 55454 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 5950 5973 60495 6184 6319 6342 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 6480 6484 6489 6515 6523 653509 6609 6610 6614 6646 6783 6916 7108 7167 729238 7369 7412 7903 79071 7941 79660 80339 81035 811 81579 81849 821 8398 8399 8435 847 8482 8529 8547 8605 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 912 9126 9173 9197 929 93589 9365 9370 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)
DOID:0050959	spinocerebellar ataxia type 8	PCYT1A	5130	Homo sapiens (human)
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	CEACAM5 HACD1	1048 9200	Homo sapiens (human)
DOID:1425	pyoureter Aliases: Ureter abscess	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALPL APRT ARSA ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP3A5 DCN DDOST DGKE ELOVL5 ENO1 ENO2 ENPP1 FADS2 FAR2 FMOD G6PC1 G6PD GAD1 GAD2 GAS1 GCK GFPT1 GLA GLO1 GPX3 HAS2 HAS3 HPRT1 HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LCAT LGALS3 LIPC LYZ MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 OGA PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SELE SELL SFTPD SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SOAT1 SORD STS SULT1E1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 1116 1118 11181 1178 142 1462 1497 151056 1555 1557 1558 1559 1571 1577 1588 1591 1594 1634 1636 1650 2023 2026 2180 22908 22925 231 2331 23417 239 249 2538 2539 2542 2571 2572 2619 2645 26503 2673 2717 27293 2739 28 2878 29071 3037 3038 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3958 3990 4069 410 412 4153 4191 4669 4684 5048 5067 5091 51548 5167 5294 5310 5311 5320 5329 5563 55711 56052 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6401 6402 64131 64132 6441 6514 6523 6614 6646 6652 6783 7108 7367 7369 7412 78989 79679 811 847 8526 9104 9197 9365 9415 9536	Homo sapiens (human)
DOID:1757	facial hemiatrophy Aliases: PARRY-ROMBERG SYNDROME	CD38	952	Homo sapiens (human)
DOID:10965	spastic diplegia Aliases: Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:4588	secretory meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	ABO ACAA1 ACAA2 ACACA ACADL ACADS ACADSB ACAN ACAT1 ACAT2 ACE ACER3 ACHE ACLY ACO1 ACO2 ACOT12 ACOT1 ACOT7 ACOT8 ACOX1 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSM3 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 AGA AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALDOB ALDOC ALG1 ALOX12 ALOX5 ALPI ALPP AMACR AMY1A AMY1B AMY1C ANXA4 ANXA5 ANXA7 APRT ARSF ART1 ASGR1 ATP6AP2 ATRNL1 B3GALNT2 B3GALT5 B3GALT6 B3GAT3 B4GALNT1 B4GALT1 B4GALT7 BCKDHB BDH2 BST2 C1GALT1 C1GALT1C1 CACNA2D1 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CEL CEMIP CERS4 CHI3L1 CHKA CHPT1 CHST11 CHSY1 CLEC10A CLEC1B CLEC2B CLEC4G CLEC7A COG8 COLEC10 COMT CPT1A CPT1B CPT2 CRLS1 CRYL1 CSPG4 CTBS CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP3A7 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP51A1 CYP7A1 DCN DCXR DGAT2 DGKG DGKK DGKQ DHCR24 DHCR7 DHDDS DHDH DLAT DLD DPAGT1 DSE EBP ECHS1 EFNA1 EFNA5 EHHADH ELOVL2 ELOVL4 ELOVL6 ENO1 ENPP1 ENPP2 ENPP3 ETNPPL EXT1 FADS1 FADS2 FASN FBP1 FBXO17 FCGR3B FCN2 FCN3 FDFT1 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 G6PC1 G6PD GAL3ST1 GALK1 GALNT10 GALNT14 GALNT1 GALNT2 GALT GAPDH GBA3 GCK GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GGT5 GLB1 GLDC GLO1 GLUL GMDS GNPAT GOLPH3 GPAA1 GPC1 GPC2 GPC3 GPC5 GPD1 GPI GPNMB GPX1 GPX2 GPX3 GUSB GYS2 HACD1 HAO2 HAS1 HAS3 HJV HK1 HK2 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD3B2 HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RAP IL1RAPL1 INPP4B INPP5D INPP5E INPP5K INPPL1 ISYNA1 KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LARGE1 LCAT LDHA LDHB LGALS1 LGALS3 LGALS4 LGALS9 LPCAT1 LPCAT3 LPIN1 LPL LYPD5 LYZ MACROD1 MACROD2 MAN1A2 MAN1B1 MAN2A1 MASP2 MBD4 MBL2 MBOAT7 MCAT ME1 MGAT1 MGAT3 MGAT5 MGAT5B MGLL MICA MMUT MOGAT2 MPG MRC1 MSLN MTAP MTMR14 MUTYH NAAA NAMPT NANS NCAM1 NCAN NEIL1 NEIL2 NEIL3 NEU1 NT5E NTM OGA OGDHL OGG1 OGT OLR1 OPCML OXCT1 PAFAH1B1 PAPSS1 PARG PARP10 PARP12 PARP14 PARP1 PARP2 PARP9 PC PCK1 PCK2 PCNA PCYT1A PCYT1B PDHA1 PDIA3 PEMT PFKFB3 PFKFB4 PFKL PFKM PGAM1 PGD PGK1 PGM1 PGM5 PGP PI4KA PIGK PIGS PIGU PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4D PLA2G6 PLAUR PLB1 PLCB1 PLCB2 PLCE1 PLCG1 PLCG2 PLOD3 PLPP5 PNLIPRP3 PNP PNPLA2 PNPLA3 POFUT1 PPAT PPP1R3C PPT1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 PYGL QTRT1 RECK RENBP RGMB RGN RPE RPIA RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDHA SDHB SDHC SDHD SELE SELENOI SELL SELP SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35A4 SLC35C1 SLC37A4 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SORD SPHK1 SPHK2 SPTLC2 SQLE SRD5A2 SRGN ST3GAL3 ST3GAL4 ST3GAL5 ST3GAL6 ST6GAL1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SULT2B1 TALDO1 TEX101 THEM4 TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED5 TMED6 TMEM165 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UAP1 UAP1L1 UGCG UGDH UGP2 UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B15 UGT2B28 UGT2B4 UGT2B7 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1	10005 10026 10038 100507436 1012 10135 10159 10162 10232 10317 10327 10400 10402 10449 10457 10462 1048 10559 1056 10584 10682 10690 10724 10747 10855 1087 10905 10998 1109 11141 1116 11181 1119 11253 11285 11332 11343 113829 115290 117145 119548 120227 124 125 126 126792 127 128 128869 130 1312 134526 135228 1374 1375 1376 139189 140733 142 1462 1463 1464 146456 146664 1486 148738 148789 151056 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1583 1586 1588 1589 1591 1593 1594 1595 1608 1609 1634 1636 1645 1646 170384 1717 1718 1737 1738 175 176 1798 189 1890 1892 1942 1946 1962 2023 2131 217 218 2180 2181 2182 219 2194 2203 2215 221914 2220 2222 226 2262 22856 229 22914 22933 22934 230 231 23175 23205 23213 23236 23409 23423 2348 2350 23509 23583 23600 23659 239 240 248 250 2523 2524 2526 2527 2528 2529 252969 2530 2538 2539 2542 2583 2584 2589 2590 2592 2597 26033 26229 2645 26503 2673 2674 2675 2678 2683 2687 27163 2719 2720 27294 27306 2731 27349 2739 2752 276 2762 277 278 28 2817 2819 2821 283748 283871 284348 284541 285704 2876 2877 2878 28992 29071 2923 2990 29940 2998 30 3036 3038 307 308 3098 3099 31 310 3158 3161 3251 3284 3290 3291 3292 3294 3295 33 3339 3383 339390 3417 3418 3425 3482 35 353 3556 36 3635 3636 3795 38 3820 3821 3824 3897 39 3931 3939 3945 3956 3958 3960 3965 3992 4023 4051 4069 412 4124 4153 416 417 4199 4245 4248 4249 43 432 4350 4360 4507 4594 4595 4684 47 4758 48 4860 4907 4968 4973 4978 50 501 5019 5048 50515 50863 5091 50999 51 5105 5106 51084 5111 51179 51181 51196 51266 5130 51302 51477 51548 5160 5167 5168 5169 51763 5209 5210 5211 5213 5223 5226 5230 5236 5239 5287 5290 5291 5293 5294 5297 5313 5315 5319 5320 5321 5329 5330 5335 5336 54187 54490 54575 54577 54578 54600 54625 54658 54675 5471 54898 5507 55247 55331 55343 5538 55512 5552 55568 5563 55753 55858 5589 55902 55959 56052 5621 5631 5652 5660 56623 56848 56898 56913 56994 57016 57103 57104 57124 5716 57214 5728 5742 5743 57733 5836 594 5973 6120 6185 6296 6319 6382 6383 6389 6390 6391 6392 6401 6402 6403 64083 641371 64419 64581 6470 6472 64761 6480 6484 64850 6487 65078 6514 6515 6517 6518 6523 6609 6610 6646 6652 6675 6713 6716 6783 6785 6820 684 6888 7086 7108 7167 7357 7358 7360 7363 7364 7366 7368 7372 7374 7412 781 7903 79071 79143 79603 79623 79661 79679 79888 7991 79947 79966 80168 80329 80339 811 81890 821 8277 8309 83639 83666 8398 8399 84076 8434 84342 8435 8443 84513 84649 847 8473 84750 84875 8505 8529 8540 85465 8547 8644 8658 873 8733 8794 8809 8821 8869 8877 8930 8985 9061 9104 912 9126 91373 9197 9200 9215 9245 929 933 9365 94005 9415 9468 9514 9517 952 9536 960 9672 972 98 9976	Homo sapiens (human)
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HOGA1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 112817 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	ACADVL ACE CALR CHPT1 CNTN3 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD THEM5	1636 2523 284486 2992 37 5067 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:0110193	Charcot-Marie-Tooth disease type 4F Aliases: CMT4F	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:0050508	variola major	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)
DOID:0110524	autosomal recessive nonsyndromic deafness 76 Aliases: DFNB76 autosomal recessive deafness 76	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:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	GLB1 SMPD1	2720 6609	Homo sapiens (human)
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	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:0111045	platelet-type bleeding disorder 9 Aliases: BDPLT9 GP Ia deficiency collagen platelet receptor deficiency glycoprotein Ia deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:13884	sick sinus syndrome Aliases: sinus node infection	ACADM ACE ACOT7 ALDH2 ALG10 ALG10B APRT CACNA2D1 CACNA2D2 CALR CAT CD38 CHI3L1 CHPT1 CPT1A CPT2 CYP19A1 EPHX2 GLA GPC3 GPD1L GYG1 HACD1 HADHA HADHB HJV HSPG2 ICAM1 IDS ITPKB LGALS3 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PRKAA2 PTGS2 SCD SELP SIGLEC7 SLC33A1 SMUG1 SQLE UGCG VCAM1	1116 11332 1374 1376 144245 148738 151056 1588 1636 2053 217 23171 23583 27036 2717 2719 2992 3030 3032 3339 3383 34 3423 353 3707 3958 5095 5096 5130 5236 5290 5291 5293 5294 5563 56994 5743 6319 6403 6713 7357 7412 781 811 847 84920 9197 9200 9254 952	Homo sapiens (human)
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ACSS2 AGRN ALDOA ALOX5 AMY1A AMY1B AMY1C ANXA5 ARSA ATP6AP2 B3GAT1 CEACAM5 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP1A2 CYP2J2 ENOSF1 GAD1 GHRL GNE GNPTAB GPD1 ICAM1 IDS IDUA IL18R1 KL LEP LEPR LGALS3 NANS NGLY1 NT5E PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G7 PLCB1 PLCB4 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCD SFTPC SLC17A5 SLC2A4 SLC33A1 SLC35A2 TM7SF2 TNF VCAM1	10020 10159 1048 1103 1116 1118 1312 1464 1544 1573 1636 226 23236 23659 240 2571 26503 27087 276 277 278 2819 308 3383 3423 3425 375790 3952 3953 3958 410 4907 51738 5290 5291 5293 5294 5332 54187 55556 5563 55768 55902 5728 5730 5742 5743 6319 6440 6517 7108 7124 7355 7412 79158 7941 8809 9197 9365	Homo sapiens (human)
DOID:0110510	autosomal recessive nonsyndromic deafness 55 Aliases: DFNB55 autosomal recessive deafness 55	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:9120	amyloidosis Aliases: amyloid disease	ACAN ACAT1 ACE ACHE ADIPOQ AGPS AKR1C4 ALOX12 ALOX15 ALOX5 ANXA5 APRT ARSA CAT CD109 CD14 CD33 CD38 CD55 CD74 CHAT CHI3L1 CHIT1 CHST6 CLEC7A CYP46A1 DCN DEGS1 DGCR2 DPEP1 EHHADH FCN2 G6PD GALNS GAPDH GOT1 GPNMB GPX1 HSD11B1 HSPG2 LYZ MAG MBL2 MICA NAGLU NCAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PLD3 PRNP PTGS1 PTGS2 SCD SDC1 SFTPA1 SLC2A12 SMUG1 SOAT1 STS SUCLA2 TNF VCAM1	100507436 10457 10858 1103 1109 1116 1118 135228 142 154091 1604 1634 1636 176 1800 1962 2220 23583 23646 239 240 246 2539 2588 2597 2805 2876 308 3290 3339 353 38 4069 4099 410 412 4153 4166 43 4669 4684 5290 5291 5293 5294 5321 5621 5742 5743 6319 6382 64581 653509 6646 7124 7412 7941 847 8540 8560 8803 929 9370 945 952 972 9993	Homo sapiens (human)
DOID:9820	central gyrate choroidal dystrophy Aliases: Choroidal dystrophy, serpiginous	ACE	1636	Homo sapiens (human)
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ABO ACACA ACADM ACADSB ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADH5 ADIPOQ ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARF4 ARSA ARSD ARSF ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BAD BDH1 BDH2 BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHI3L2 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CHSY3 CLEC10A CLEC14A CLEC3A CLEC4G CLGN CNTN1 CNTN3 CNTN4 CNTN6 COG3 COLGALT2 COMT CPM CPT1A CPT1C CPT2 CRLS1 CRYL1 CSGALNACT1 CSPG4 CYB5R3 CYB5R4 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2U1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 CYP7B1 DAG1 DBT DCN DCTD DERA DGKA DGKE DGKG DHCR24 DHDDS DHRS11 DLAT DLD DPAGT1 DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FH FIG4 FKTN FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 G6PC1 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT4 GALNT5 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLA GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPAT3 GPC1 GPC2 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX6 GPX7 GUSB H6PD HACD1 HADHA HADHB HAS1 HAS2 HJV HK1 HK2 HK3 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST2 HS3ST3A1 HS3ST3B1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDS IDUA IGF2 IGF2R IL18R1 IL1R1 IL1RAPL1 IL1RAPL2 IMPA1 INPP4B INPP5D INPP5F INPP5J INPP5K INPPL1 ISYNA1 KAT2B KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LEP LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN1A1 MAN2C1 MANEA MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT3 MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MRC1 MSLN MTAP MTM1 MTMR3 MTMR8 MUTYH NAMPT NANS NCAM1 NDST1 NEIL2 NEU1 NT5E NTHL1 NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OXSM PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PI4K2A PIGS PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP4 PLPP5 PNLIPRP1 PNP PNPLA2 POFUT1 PPAT PPP1R3A PPP1R3B PPP1R3C PPT1 PRG2 PRKAA1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB PYGM QTRT1 RECK RENBP RGMA RGMB RGN RPN2 SACM1L SCD5 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SFTPD SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35A4 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GAL2 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 SYNJ2 TALDO1 TBXAS1 TDG TECTA TEX101 THEM4 TIGAR TKT TKTL1 TLR2 TLR4 TM7SF2 TMED1 TMED3 TMED5 TMEM199 TMTC3 TMTC4 TNF TNFRSF10C TNKS2 TNKS TP53 TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B4 UGT2B7 UGT8 UMOD UMPS UPP1 VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10143 10159 10195 10232 10327 1040 10400 10457 10462 1047 1048 10558 1056 10610 10682 10724 10728 10855 1087 10873 11018 11041 1109 1113 11141 11145 1116 11164 1117 1118 1119 11226 11227 11332 11343 113612 113829 117145 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 154091 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1608 161198 1629 1634 1635 1636 1645 1646 166929 1718 1727 1737 1738 1798 1800 1836 1890 1892 1942 1943 1946 196051 200576 2023 2026 207 2131 2132 2137 217 218 2180 2181 2182 219 2194 220 220074 2203 2215 2218 221914 226 2271 22856 22876 22908 22914 22925 22933 231 23127 23175 23205 23213 23236 2331 23396 23409 23423 2350 23509 23545 23583 23600 23659 239 240 247 248 249 250 2517 2523 2524 2525 2526 2528 252969 2530 253782 2538 2539 2572 257202 25796 2583 2588 2597 26033 26035 2619 26279 26280 2651 2653 266722 2673 2674 2683 27036 27087 27124 2717 2719 2720 27255 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 285704 2876 2877 2878 2882 28992 2923 2990 29940 29956 3030 3032 3036 3037 307 308 3098 3099 31 310 3101 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3339 3340 3373 337876 3383 339390 34 340075 3417 3418 3423 3425 347734 3481 3482 353 3554 36 3612 3635 3636 378 3897 39 3906 3939 3945 3948 3952 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4121 4123 414 4153 416 4245 4248 4249 427 43 4326 4350 4360 4507 4534 4594 4595 4680 4684 47 4758 4860 4907 4913 4967 4968 4973 4978 50 501 50515 50614 5067 5091 50999 51071 51084 51144 51167 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5208 5209 5210 5213 5214 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5407 54187 54575 54576 54578 54600 54657 54658 54659 54675 5471 54742 54936 54965 54995 5506 5507 55361 5538 55512 5552 5553 55613 5562 5563 55750 55753 55790 55799 55808 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56898 56913 56963 56965 56994 570 57016 57103 57104 57126 5716 572 57214 5728 5730 5740 5742 5743 57452 57818 5834 5837 5973 60495 6185 622 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6441 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7007 7086 7087 7097 7099 7108 7124 7157 7167 7355 7357 7358 7363 7364 7366 7367 7368 7369 7372 7378 7412 7903 79154 7923 79603 79623 79660 79679 79694 79837 79888 7991 79947 79966 80201 80351 8050 81031 811 8128 81544 81849 81890 821 8277 8309 83539 83548 83639 83666 8394 8396 8398 8399 84002 8434 84513 84620 847 84725 8473 84803 84812 8482 84899 8505 8526 85365 8605 8611 8630 8644 8658 8692 8693 8705 873 8733 874 8794 8809 8821 8850 8871 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9370 9388 94005 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 98 9896 9953 9955 9956	Homo sapiens (human)
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)

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