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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 **2851 - 2875** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1607	hypoglycemic coma	ACADM GCK HADH HMGCL	2645 3033 3155 34	Homo sapiens (human)
DOID:161	keratosis	CAT HPGDS OGG1 PIK3CA SDHD SPTLC1	10558 27306 4968 5290 6392 847	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:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CYP17A1 CYP19A1 CYP1B1 HSD17B1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1545 1586 1588 23583 3292 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	ALG1 CD74 CYP17A1 CYP1A1 DCN DHCR24 GOLPH3 PIK3CA PTEN STS	1543 1586 1634 1718 412 5290 56052 5728 64083 972	Homo sapiens (human)
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	A4GALT A4GNT ABAT ABO ACACA ACACB ACADL ACADM ACADS ACAN ACAT1 ACE ACER2 ACHE ACLY ACO1 ACO2 ACOT7 ACOT8 ACOX1 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSL6 ACSM3 ACSS1 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 ADPRH AGA AGK AGL AGPAT1 AGPAT2 AGPS AGRN AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDH9A1 ALDOA ALDOB ALG1 ALG2 ALG3 ALOX12 ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR AMT AMY1A AMY1B AMY1C AMY2A ANXA4 ANXA5 ANXA7 ANXA9 APRT ARSA ARSB ARSF ARSG ARSH ARSI ART1 ART3 ASAH1 ASGR1 ATP6AP1 ATP6AP2 ATP6V0A2 ATRN ATRNL1 B3GALNT1 B3GALNT2 B3GAT1 B3GAT3 B3GNT2 B3GNT3 B3GNT6 B4GALNT1 B4GALNT2 B4GALNT3 B4GALNT4 B4GALT1 B4GALT3 B4GALT5 BAAT BCKDHB BDH1 BDH2 BPHL BRAF BST1 BST2 C1GALT1 C1GALT1C1 CA4 CACNA2D1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CCDC115 CD109 CD14 CD177 CD1D CD209 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDIPT CDS1 CDS2 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS1 CERS2 CERS4 CERS5 CERS6 CFC1 CHAT CHGA CHI3L1 CHI3L2 CHIT1 CHKA CHODL CHPF2 CHPF CHPT1 CHST11 CHST15 CHST2 CHST3 CHST4 CHST9 CHSY1 CLC CLEC10A CLEC12A CLEC12B CLEC14A CLEC18B CLEC1B CLEC2B CLEC3A CLEC6A CLEC7A CLEC9A CMAS CNTFR CNTN1 CNTN2 CNTN3 CNTN4 COG3 COL9A2 COLEC10 COMT CPM CPT1A CPT1B CPT1C CPT2 CRLS1 CRYBG1 CRYBG3 CRYL1 CS CSPG4 CTBS CTSA CYB5R1 CYB5R2 CYB5R3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 CYP46A1 CYP4A11 CYP4F2 CYP4F3 CYP51A1 CYP7B1 DAD1 DAG1 DBT DCN DCTD DCXR DDOST DEGS1 DGAT1 DGAT2 DGCR2 DGKA DGKB DGKD DGKE DGKG DGKI DGKZ DHCR24 DHDDS DHRS11 DLD DLST DPAGT1 DPEP1 DSE EBP ECHS1 EFNA1 EFNA2 EFNA5 EHHADH ELOVL1 ELOVL4 ELOVL5 ELOVL6 ELOVL7 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 ENPP3 ENPP7 EPHX2 EPM2A ERLEC1 ETNK1 ETNPPL EXT1 EXT2 EXTL1 EXTL2 EXTL3 FADS1 FADS2 FASN FBP1 FBP2 FBXO17 FCER2 FCGR3B FCN1 FCN2 FCN3 FDFT1 FDPS FH FKTN FMOD FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT7 FUT8 FUT9 G6PC1 G6PC3 G6PD GAA GAD1 GAD2 GAL3ST1 GALC GALK1 GALNS GALNT11 GALNT12 GALNT13 GALNT14 GALNT2 GALNT3 GALNT4 GALNT5 GALNT6 GALNT7 GALNT9 GALT GAPDH GAPDHS GAS1 GBA1 GBA2 GBA3 GBE1 GBGT1 GCK GCNT1 GCNT2 GCNT3 GCSH GDPD5 GFPT1 GFPT2 GFRA1 GFRA2 GGT1 GLA GLB1 GLCE GLDC GLO1 GLUL GM2A GMDS GML GNE GNPAT GNPNAT1 GNPTAB GNS GOLPH3 GPAA1 GPAM GPAT2 GPAT3 GPC1 GPC2 GPC3 GPC5 GPC6 GPD1 GPD2 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB GYS2 H6PD HACD1 HACD2 HACD4 HADH HADHA HADHB HAGH HAO2 HAS1 HAS2 HAS3 HEXA HIBCH HK1 HK2 HK3 HKDC1 HMGCL HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST1 HS3ST2 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HSD3B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 ICAM2 ICAM5 IDH1 IDH2 IDH3A IDS IDUA IGF2R IL18R1 IL18RAP IL1R1 IL1RAP IL1RAPL1 IL1RL1 IMPA1 IMPA2 INPP1 INPP4A INPP4B INPP5A INPP5D INPP5E INPP5J INPP5K INPPL1 IPMK ISYNA1 ITLN1 ITPK1 ITPKA ITPKB IZUMO1R KDSR KHK KL KLB KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LALBA LARGE1 LARGE2 LAYN LCT LDHA LDHB LDHC LGALS1 LGALS2 LGALS3 LGALS4 LGALS8 LGALS9 LGALS9C LIPA LIPC LIPG LMAN1 LPCAT1 LPCAT3 LPIN1 LPIN2 LPL LSS LTA4H LY6K LY75 LYG1 LYPD3 LYPD5 LYPLA1 LYZ M6PR MACROD1 MACROD2 MAG MAN1A1 MAN1B1 MAN1C1 MAN2A1 MANEA MASP1 MASP2 MBD4 MBL2 MCAT MCFD2 MDGA1 MDGA2 MDH1 MDH2 ME1 ME2 ME3 MELTF MGAM MGAT1 MGAT2 MGAT3 MGAT4A MGAT4B MGAT5 MGAT5B MGLL MICA MINPP1 MLYCD MMP17 MMP25 MMUT MOGS MPDU1 MPG MPI MPPE1 MRC1 MSLN MSMO1 MTAP MTM1 MTMR14 MTMR2 MTMR3 MTMR6 MTMR7 MUTYH NAAA NAGA NAGLU NAMPT NANP NANS NCAM1 NCAN NDST1 NDST4 NDUFAB1 NEIL1 NEIL2 NEIL3 NEU1 NEU2 NEU3 NEU4 NGLY1 NSDHL NT5E NTHL1 NTM NTNG1 NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OS9 OVGP1 OXCT1 PAFAH1B1 PAFAH1B2 PAPSS1 PARG PARP12 PARP14 PARP15 PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCK1 PCK2 PCYT1A PCYT1B PCYT2 PDHA1 PDHX PDIA3 PEMT PFKFB1 PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAM2 PGAP2 PGD PGK1 PGK2 PGM1 PGM3 PGP PI4K2A PI4KA PIGA PIGF PIGH PIGK PIGS PIGU PIGX PIGZ PIK3C2A PIK3C2B PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C PIP5KL1 PISD PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G4C PLA2G5 PLA2G6 PLA2G7 PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLET1 PLOD3 PLPP1 PLPP2 PLPP3 PLPP5 PMM2 PNLIP PNP PNPLA2 PNPLA3 PNPLA6 POFUT1 POGLUT1 POMT2 PPP1CA PPP1CB PPP1CC PPP1R3A PPP1R3B PPP1R3C PPT1 PPT2 PRG2 PRG3 PRKAA2 PRKCSH PRNP PRPS1 PRPS2 PRSS21 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB PYGM QTRT1 RAET1G RECK REG1B REG3G RENBP RFT1 RGMA RGMB RGN RPE RPIA RPN2 RTN4R SCD5 SCD SDC1 SDC2 SDC3 SDC4 SDCBP2 SDHA SDHB SDHC SDHD SELE SELENOI SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SGMS2 SGPL1 SGPP1 SGPP2 SGSH SHMT1 SHMT2 SI SIGLEC10 SIGLEC15 SIGLEC1 SIGLEC5 SIGLEC7 SIGLEC8 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC27A5 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC2A8 SLC33A1 SLC35A1 SLC35A2 SLC35A4 SLC35B2 SLC35F5 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SORD SPACA3 SPAM1 SPHK1 SPHK2 SPTLC1 SPTLC2 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST3GAL4 ST3GAL6 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST6GALNAC4 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA3 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TALDO1 TDG TEX101 THEM4 TIGAR TIPARP TKT TKTL1 TKTL2 TM7SF2 TMED5 TMED9 TMEM165 TMEM260 TNFRSF10C TNKS2 TNKS TP53 TPI1 TPST1 TREH TUSC3 TYMP UGCG UGDH UGGT1 UGGT2 UGP2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2A1 UGT2B10 UGT2B15 UGT2B17 UGT2B28 UGT2B4 UGT2B7 UGT8 ULBP1 ULBP2 UMOD UMPS UNG UPP1 UPP2 UST VCAM1 VCAN VNN1 VNN2 VTCN1 XPNPEP2 XXYLT1 XYLT2	10005 10020 10026 10038 10039 100507436 10082 100861540 10090 1012 10135 10143 10159 10162 10164 10195 10232 10327 10331 10394 1040 10400 10402 10423 10434 10457 10462 1048 10554 10555 10558 10559 1056 10584 10610 10678 10682 10690 10715 10724 10728 10747 10825 10855 10858 1087 10873 10908 10941 10942 10956 10998 1103 1109 1113 11141 11145 1116 11164 1117 1118 11181 1119 11226 11227 11253 11282 11320 11332 11343 113612 113829 114805 115290 117145 1178 120071 120227 124 124872 124912 125 126 126129 127 1271 1272 128 128869 129530 1298 129807 130 130120 130367 131 1312 131544 135228 1368 1374 1375 1376 138429 140578 140733 140838 141 142 143 1431 143903 1462 1463 1464 146664 1486 148789 150763 151056 151531 152002 152330 152831 154091 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1579 1583 1584 1585 1586 1588 1589 1591 1593 159371 1594 1595 1603 160364 1604 1605 1606 1607 1608 161198 161357 1629 1634 1635 1636 1645 1646 1650 165631 166929 1718 1727 1738 1743 175 176 178 1798 18 1800 1836 189 1890 1892 192134 1942 1943 1946 1962 200576 201562 202 2023 2026 2053 207 208 2131 2132 2134 2135 2137 217 218 2180 2181 2182 219 2194 220 2203 2208 2215 2218 2219 221914 2220 2222 2224 223 226 2262 2271 22854 22856 229 22901 22914 22918 22925 22933 22934 231 23175 23205 23213 23236 23305 2331 23396 23409 23417 2348 2350 23509 23545 23583 23600 23659 23761 239 240 246 247 248 249 250 2517 2523 2524 2525 2526 2528 2529 252969 2530 2531 253430 253782 2538 2539 2542 2548 2571 2572 2581 2583 2584 2588 2590 2591 2592 259230 2597 25976 26033 26035 2619 26229 26275 26279 2629 26301 2632 26330 2645 2650 26503 2651 2653 266722 266727 2673 2674 2675 2678 2683 27036 27076 27087 27090 27111 27124 27163 2717 27180 27181 2719 2720 27248 27306 2731 27315 27349 2739 275 2752 276 2760 2762 2765 277 278 279 2799 28 2817 2819 2820 2821 2822 283358 283420 283871 284266 284348 285362 285704 2876 2877 2878 2882 28992 29071 2923 2990 29940 29954 29956 2998 29988 3029 3030 3032 3033 3036 3037 3038 307 3073 308 30835 3098 3099 31 310 3101 3155 3158 3161 32 3251 3283 3290 3291 3292 3293 3294 3295 33 3339 3340 3373 3383 3384 338707 339221 34 340075 340485 3417 3418 3419 3423 3425 347527 347734 3482 349633 35 353 353091 3554 3556 3612 3613 3628 3631 3632 3635 3636 3705 3706 3707 375790 3795 38 3820 3821 3824 387837 3897 390243 3906 3938 3939 3945 3948 3956 3957 3958 3960 3964 3965 3988 3990 3992 3998 401494 4023 4047 4048 4051 4065 4069 4074 4099 410 411 412 4121 4124 4153 416 417 419 4190 4191 4199 4200 4241 4245 4247 4248 4249 427 43 432 4326 4350 4351 4360 4507 4534 4594 4595 4668 4669 4680 4684 47 4706 4758 4759 48 4860 4907 4913 4967 4968 497190 4973 4978 50 501 5016 5019 5048 50487 5049 50515 50614 5067 50814 50863 5091 50999 51 51046 5105 5106 51084 51144 51146 51179 51181 51196 51266 5130 51363 51477 51478 51548 5160 5167 5168 5169 51700 51703 51706 51763 51809 5207 5208 5209 5210 5213 5214 5223 5224 5226 5230 5232 5236 5238 5277 5281 5283 5286 5287 5288 5289 5290 5291 5293 5294 5297 5305 5310 5311 5313 5315 5319 5320 5321 5322 5329 5330 5331 5332 5333 5335 5336 5337 5338 537 5373 53947 5406 54187 54480 54490 54575 54576 54577 54578 54579 54600 54625 54657 54658 54659 54675 54732 54742 5476 54916 54965 5499 5500 5501 5506 5507 55247 55361 5538 55500 55512 5552 5553 55556 55600 5563 55750 55753 55757 55768 55799 55808 55858 5589 55902 55907 55959 55997 56052 5621 5631 5634 5648 5652 5660 56623 56848 56886 56898 56913 56963 56965 56983 56994 570 57016 57103 57104 57124 57126 57134 5716 57214 5728 5730 5740 5742 5743 57678 57704 57733 5833 5834 5837 594 5968 5973 60481 60495 6120 6185 622 6296 6307 6319 6382 6383 6385 6389 6390 6391 63917 6392 6401 6402 6403 64083 64116 64132 64386 6440 6441 64419 6448 64579 64581 6470 6472 6476 64761 64781 6480 6482 64834 6484 64841 64850 6487 6489 65078 6514 6515 6517 6518 6519 6523 65258 653509 654346 6609 6610 6614 6646 6652 6677 670 6713 6715 6716 673 6783 6785 683 684 6888 6900 6996 7086 7087 7108 7157 7167 729238 7355 7357 7358 7360 7363 7364 7365 7366 7367 7368 7369 7372 7374 7378 7412 7512 762 781 7841 7903 79071 79154 79158 7923 7941 7957 79586 79603 79611 79623 79660 79661 79679 79694 79695 79837 79888 7991 79947 79966 79993 80201 80235 80255 80270 80328 80329 80339 80351 8050 81031 811 8128 81537 81544 81849 81890 821 8277 83539 83548 83639 83666 8372 8394 8395 8396 8398 8399 84076 8416 84317 8434 8435 8443 84513 84532 8455 8460 84649 847 84725 8473 84803 8482 8505 8525 8526 8527 8529 85365 8540 85465 8547 8560 8605 8611 8612 8613 8630 8644 8658 8692 8693 8694 8703 8706 873 8733 874 8760 8778 8789 8794 8807 8809 8821 8875 8876 8877 8879 8897 8898 8930 8972 89790 8985 90411 9061 91012 9104 9107 9108 912 9126 9162 9173 91869 9197 9200 9215 9245 9254 92579 929 933 9334 9365 9374 9388 93978 94005 9415 9420 9435 945 9468 9469 9514 9517 952 9526 9536 9562 9563 960 962 9663 9672 972 98 9945 9956 9957 9976 9993	Homo sapiens (human)
DOID:1625	breast adenoma Aliases: Ademoma - breast	PIK3CA PTEN	5290 5728	Homo sapiens (human)
DOID:1626	breast duct papilloma Aliases: duct papilloma of breast papilloma of the breast	PIK3CA	5290	Homo sapiens (human)
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:1631	benign breast phyllodes tumor Aliases: Cystosarcoma phyllodes Phyllodes neoplasm benign Phyllodes neoplasm benign Phyllodes neoplasm of the breast benign cystosarcoma phyllodes	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 5728 6389 6390 79679 8821	Homo sapiens (human)
DOID:1639	skeletal tuberculosis Aliases: osteoarticular tuberculosis	AGA	175	Homo sapiens (human)
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	ACADVL ARSA ARSD ARSH B3GALT6 B3GLCT CHST3 COMT DGCR2 DHCR7 ECHS1 EXT2 FIG4 GPC3 GPC6 HAS2 IGF2 MASP1 MGAT2 NSDHL PDHA1 PFKL PIGL PIGP PIGQ PIK3CA SDHA SMC3 SOAT1 TALDO1 TGDS TKT TMEM260 XYLT1 XYLT2	10082 126792 1312 145173 1717 1892 2132 23483 2719 3037 347527 3481 37 410 414 4247 50814 51227 5160 5211 5290 54916 5648 6389 64131 64132 6646 6888 7086 9091 9126 9469 9487 9896 9993	Homo sapiens (human)
DOID:1659	supratentorial cancer Aliases: Brain neoplasm, Supratentorial malignant Supratentorial tumor	IDH1	3417	Homo sapiens (human)
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)
DOID:1664	pineoblastoma Aliases: Pineal PNET	CHGA ENO2	1113 2026	Homo sapiens (human)
DOID:1673	pneumothorax	CHST14 PTGS1 PTGS2 SMUG1 TECR	113189 23583 5742 5743 9524	Homo sapiens (human)
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)
DOID:1679	cystitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 TNF	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 7124 847	Homo sapiens (human)
DOID:1681	heart septal defect Aliases: Cardiac septal defects Congenital septal defect of heart septal defect	ALG8 ALG9 ATP6AP2 B3GALT6 B3GLCT DAG1 NSDHL PIGN	10159 126792 145173 1605 23556 50814 79053 79796	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:1686	glaucoma	ABO ACHE AGK AKR1C3 AKR1C4 ALDH7A1 ALPI ALPP AMT ANXA5 APRT ARSB ARSD ASAH1 ASAH2 B3GALNT2 B3GAT3 B3GLCT B4GAT1 BAD CA4 CACNA2D1 CHST14 COMT CRPPA CYP1B1 CYP2B6 CYP2J2 DAG1 DERA DHCR7 DHDDS DPM2 EBP ELOVL5 FKRP FKTN FUT8 GBA2 GLA GMPPB HGSNAT HPGDS HPSE2 HPSE HSD11B1 HSD17B7 HYAL3 IDH3A IDH3B IDUA INPP5B KDSR LARGE1 LGALS9 MASP1 MGLL MTMR2 OCRL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRNP PTEN PTGS1 RXYLT1 SELE SMC3 SRD5A3 TMTC2 TNF VCAN XYLT1	10329 10585 10682 10855 11041 1109 113189 11343 1312 138050 145173 1462 148789 151056 1545 1555 1573 160335 1605 1717 2218 248 250 2530 2531 26229 2717 27306 275 28 29925 29954 308 3290 3419 3420 3425 353 3633 3965 411 414 427 43 4952 501 51071 51478 5286 5290 5291 5293 5294 5321 55624 55750 5621 5648 56624 572 5728 5742 57704 60481 60495 6401 64131 7124 729920 762 781 79147 79644 79947 8372 84197 84892 8644 8818 8898 9126 9215	Homo sapiens (human)
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	LGALS1 PRNP	3956 5621	Homo sapiens (human)
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)
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	ACE ALDH3A2 ALOX12B AMY2B ARSA CERS3 DGAT1 DOLK EBP ELOVL3 ELOVL4 GBA1 HS6ST1 HSD17B6 LPIN2 MPDU1 MSMO1 PIGL PNPLA2 PNPLA6 SGPL1 SRD5A3 STS SULT2B1 SUMF1	10682 10908 1636 204219 224 22845 242 2629 280 285362 410 412 57104 6307 6785 6820 79644 83401 8630 8694 8879 9394 9487 9526 9663	Homo sapiens (human)
DOID:1699	obsolete congenital ichthyosiform erythroderma	ACE ADH5 ALDH3A1 ALDH3A2 ALOX12B AMY2B CD44 CERS3 COG7 DGAT1 EBP ELOVL4 FCER2 GBA1 HSD17B6 LPIN2 MPDU1 MRC1 NSDHL PIGA PNPLA2 PNPLA6 PRSS8 SGPL1 STS SULT2B1	10682 10908 128 1636 204219 218 2208 224 242 2629 280 412 4360 50814 5277 5652 57104 6785 6820 8630 8694 8879 91949 9526 960 9663	Homo sapiens (human)

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