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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5126 - 5150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)
DOID:5672	large intestine cancer	ABO ACACA ACACB ACADM ACAN ACAT1 ACE ACHE ACLY ACO2 ACOT7 ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ACYP2 ADH1B ADH1C ADH7 AFMID AGL AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOB ALOX12 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR AMDHD2 AMT ANXA4 ANXA5 ANXA7 ANXA9 APRT ARSA ARSB ART1 ASAH1 ASAH2 ATP6AP2 ATP6V1A ATRNL1 B3GALT4 B3GALT5 B3GAT1 B3GNT6 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 B4GALT1 B4GALT2 B4GALT3 B4GALT5 B4GALT6 BAAT BST2 C1GALT1 C1GALT1C1 CA4 CACNA2D1 CACNA2D2 CALR CAT CBR1 CD109 CD14 CD177 CD209 CD248 CD33 CD38 CD44 CD55 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CERS6 CHAT CHGA CHI3L1 CHIT1 CHKA CHPF2 CHPT1 CHST4 CHST7 CHST8 CHSY1 CHSY3 CLC CLEC3A CMAS CNTN1 CNTN4 COG8 COMT CPM CPO CPT1A CPT2 CSGALNACT1 CTBS CTSA CYB5R1 CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DEGS1 DEGS2 DGKB DGKE DGKG DGKZ DHCR24 DHCR7 DHDDS DHRS11 DLD DPAGT1 DPEP1 DSEL EBP EFNA1 ELOVL5 ENO1 ENOSF1 ENPP1 ENPP3 ENPP7 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FCN1 FCN2 FH FOLR1 FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 G6PD GAD2 GALK1 GALM GALNS GALNT11 GALNT12 GALNT14 GALNT15 GALNT1 GALNT3 GALNT4 GALNT6 GALNT7 GAPDH GAS1 GCDH GCNT1 GCNT2 GCNT3 GCNT7 GDPD5 GFRA1 GFRA2 GGT1 GLB1 GLO1 GLTP GMDS GML GOLPH3 GPAA1 GPC1 GPC3 GPC6 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GUSB H6PD HADHB HAS2 HAS3 HEXB HIBCH HK1 HK2 HK3 HKDC1 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD17B7 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDUA IGF2R IL18R1 IL1R1 IL1RL1 IMPA1 INPP1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRC1 KLRK1 L1CAM LAYN LCT LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LMAN1 LPCAT2 LPCAT4 LPIN1 LPL LTA4H LTC4S LY6G6D LYPD5 MACROD1 MACROD2 MANBA MASP2 MBD4 MBL2 MCAT ME1 MECR MELTF MGAT4A MGLL MICA MINPP1 MMP25 MMUT MPG MRC1 MSLN MTM1 MTMR3 MTMR7 MUTYH NAAA NAMPT NANP NCAM1 NDST4 NEIL1 NEIL2 NEU1 NEU3 NT5E NTHL1 NTNG1 OGA OGDH OGDHL OGG1 OGT OLR1 OVGP1 PARP1 PARP4 PARP6 PARP8 PCCA PCCB PCK1 PCYT1A PCYT1B PDHX PDIA3 PFKFB3 PGAM1 PGK1 PGM1 PGM5 PGP PIGF PIGK PIGN PIGO PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAAT3 PLAUR PLB1 PLCB1 PLCD1 PLCE1 PLCG1 PLCH1 PLD1 PLD2 PLD4 PLEKHA8 PMM2 PNP PNPLA2 POC1B-GALNT4 POFUT1 POGLUT1 PPP1R3A PPP1R3C PPT1 PRG2 PRKAA2 PRNP PRPS1 PSMD10 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGMB RGN RPE RPIA RPN2 RTN4R RTN4RL2 SCD SDC1 SDC2 SDC4 SDCBP2 SDHB SDHC SDHD SELE SELL SGMS1 SGMS2 SGPL1 SHMT1 SHMT2 SI SIGLEC6 SIGLEC7 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SQLE SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST6GALNAC1 ST6GALNAC2 ST8SIA1 ST8SIA4 STS STT3A SULF1 SULF2 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED6 TMED9 TMTC1 TNKS TPI1 TPST1 TUSC3 TYMP UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B28 UGT2B7 UGT3A2 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1 VTCN1	10026 100507436 100528030 10082 1012 10135 10143 10159 10164 10232 10317 10327 1040 10402 10457 1048 10610 10682 10690 10724 10747 10825 10855 10858 1087 1103 1113 11145 1116 1118 1119 11226 11320 11332 11343 114780 117248 1178 120227 122618 123099 125 125061 126 1272 128869 130589 130749 131 1312 135228 1368 1374 1376 140687 140733 140838 142 143 143903 1462 146456 146712 1486 151056 152330 1543 1544 1545 1555 1557 1559 1571 1576 1577 1581 1586 1588 1591 159371 1594 1604 1605 1607 1608 1634 1636 1645 166929 167127 1717 1718 1727 1738 176 178 1798 1800 1836 1890 192134 1942 2023 2132 2137 217 218 2180 2182 219 2194 220 2203 2215 2219 2220 2271 22854 22856 229 22914 22933 22934 23007 231 23175 23213 23236 23409 23423 2348 2350 23509 23556 23583 23600 23659 239 240 242 246 247 248 250 2517 2523 2524 2525 2526 2527 2528 2529 252969 2530 253782 2539 254531 2572 2584 2588 2589 2591 259230 2597 26033 2619 26275 26279 2639 2650 26503 2651 2674 2675 2678 2683 27036 27087 27111 27163 27180 2719 2720 27306 27349 2739 275 2762 2765 28 2817 2821 2822 283358 283871 284348 285704 2876 2877 2878 28992 29071 2923 2990 3032 3037 3038 307 3074 308 30835 3098 3099 31 310 3101 3157 3158 3161 32 3251 3290 3291 3292 3294 3295 3339 3373 337876 3383 339221 34 3417 3418 3425 3482 349667 353 3554 3612 3628 3635 3636 3703 374907 38 3821 3897 3938 3939 3945 3956 3958 3960 3964 3965 3990 3992 3998 4023 4048 4051 4056 410 411 412 4126 4153 417 4199 4241 427 43 4350 4360 4534 4594 4595 4680 4684 47 4758 4860 4907 4913 4967 4968 4973 50 501 5016 50487 5095 5096 51 51005 5105 51102 51196 51228 5130 51477 51478 51548 5167 5169 51703 51706 51809 5209 5223 523 5230 5236 5239 5281 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 5337 5338 5373 54480 54490 54575 54576 54577 54578 54600 54657 54658 54732 5476 54947 5506 5507 5538 5552 5553 55556 5563 55753 55790 55808 55902 55907 55959 5621 5631 56548 56624 56848 56913 56965 56983 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5740 5742 5743 58530 5968 5973 60481 6120 6185 6319 6382 6383 6385 6390 6391 63917 6392 6401 6402 64083 64116 64377 64386 64579 6470 6472 6476 6480 6484 6489 65078 6514 6515 6517 6518 6609 6646 6652 6713 6783 684 6996 7086 7087 7108 7167 7355 7364 7366 7367 7372 7374 7378 7412 762 781 7903 79154 7941 79603 79623 79661 79668 79679 79695 7991 79947 80142 80201 80328 8050 811 81544 8277 83857 8394 8398 8399 84076 8416 8434 84342 8460 847 84720 84725 8473 8525 8526 85329 8560 8644 8658 8692 8693 8703 8704 8705 873 8733 8809 8821 8871 8876 8877 8879 8897 8930 91012 9104 9108 9126 9173 9197 92126 9245 9254 929 93010 9331 9334 9365 9415 9420 945 946 9468 952 9536 9562 9563 960 98	Homo sapiens (human)
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GPX1 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 2876 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	ABO ACACA ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOX3 ACSL3 ACSL4 ACSM3 ACSS2 ADH1C ADH5 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ALDH1B1 ALDH3A1 ALDH7A1 ALOX12 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APRT ARSB ARSF ARSG ASAH1 ATF4 ATP6AP2 ATRNL1 B3GAT1 B3GNT2 B3GNT6 B4GALT4 BAAT BAD BST1 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CCDC115 CD109 CD14 CD177 CD1D CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CERS2 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST14 CLEC10A CLGN CMAS CNTN1 COMT CPT1A CPT2 CRYBG1 CRYL1 CTBS CYB5R2 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP4F3 CYP4F8 CYP7B1 DAG1 DCN DCXR DDOST DEGS1 DGAT1 DGAT2 DGKK DGKZ DHCR24 DHDDS DHDH DHRS11 DLD DLST DPEP1 ECI2 EDEM3 EFNA2 EFNA5 EHHADH ELOVL3 ELOVL5 ELOVL7 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FASN FBP1 FBXO44 FCN2 FDFT1 FDPS FH FMOD FUT1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 G6PD GAD1 GAD2 GAL3ST2 GALNS GALNT3 GALNT4 GAPDH GCK GCNT1 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GOLPH3 GPC1 GPC3 GPC5 GPLD1 GPNMB GPX1 GPX2 GPX3 GRHPR GUSB HACD1 HADHA HADHB HAGH HAO1 HAS3 HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD17B12 HSD17B1 HSD17B2 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HSPG2 HYAL1 ICAM1 ICAM5 IDH1 IDH2 IGF2R INPP4B ISYNA1 KL KLB KLRB1 KLRG2 KLRK1 L1CAM LARGE2 LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LIPA LPCAT1 LPCAT2 LPIN1 LPIN2 LPL LTA4H LYPD5 LYPLA1 M6PR MAG MAN2A1 MAN2C1 MASP1 MBL2 MCAT MDH2 MGAT1 MGAT4C MGAT5 MGLL MICA MRC1 MTAP MUTYH NAAA NAGK NAGLU NANS NCAM1 NDST2 NDST4 NEU1 NEU2 NEU3 NPL NT5E OGG1 OLR1 OPCML PARP1 PARP2 PARP9 PCK2 PCYT1A PCYT1B PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAM2 PGK1 PI4KA PIGP PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLA2R1 PLAAT3 PLAUR PLB1 PLCG1 PLD1 PLD2 PLPP4 PNP PNPLA2 PPP1R3A PPT1 PRG2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RECK RENBP RGMA RGMB RGN RPN2 SARM1 SCD SDC1 SDHC SELE SFTPA2 SFTPD SHMT1 SHMT2 SIGLEC12 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC2A12 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B4 SLC35G1 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRD5A3 ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC3 ST8SIA4 STS SUCLG2 SULF2 SULT1E1 SULT2B1 TBXAS1 TKTL1 TM7SF2 TMED3 TMED9 TNFRSF10C TNKS TUSC3 TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B10 UGT2B11 UGT2B15 UGT2B17 UGT2B28 UGT8 UMPS UNG VCAM1 VCAN XPNPEP2	10038 100507436 1012 10159 10327 10434 10455 10457 10462 1047 1048 10678 10720 10728 10825 10855 1113 11145 1116 1118 1119 11283 113189 11332 11343 120071 120227 126 1272 128 1312 135228 1374 1376 139189 142 1462 1486 151056 152831 154091 1543 1544 1545 1555 1557 1558 1571 1576 1577 1583 1585 1586 1588 1591 1593 159371 1594 1604 1605 1634 1636 1645 1646 1650 1718 1738 1743 1800 1890 192134 1943 1946 196051 1962 202 2023 2026 2053 208 218 2181 2182 219 2194 220 2203 2220 2222 2224 2262 2271 22901 22914 22925 22933 23098 23175 2331 23423 23583 23600 23659 239 240 242 246 247 248 249 250 2523 2525 2526 2527 2528 2529 2530 2539 256435 2571 2572 25834 2588 2591 2597 26033 26035 2645 2650 2674 2678 27036 27087 27163 2719 2720 27294 27306 2731 27349 2739 2752 28 2817 2822 284348 285704 2876 2877 2878 2923 2990 29956 3029 3030 3032 3038 307 308 3099 31 310 3157 3158 3161 3251 3283 3284 3290 3292 3293 3294 3295 3339 3373 3383 3417 3418 342372 346689 3482 353 38 3820 3897 3938 3939 3945 3948 3956 3958 3960 3964 3988 4023 4048 4051 4074 4099 411 412 4123 4124 4153 416 4191 4245 4249 427 43 4360 4507 4595 4669 468 4680 4684 47 4758 4759 48 4860 4907 4968 4973 4978 50 501 5106 51084 51144 51181 51227 5130 51302 51477 51478 51548 5160 5167 5168 51700 5209 5210 5223 5224 5230 5287 5290 5291 5293 5294 5297 5310 5311 5313 5315 5319 5320 5321 5329 5335 5337 5338 54187 54363 54490 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 54947 5506 5538 5553 55577 5563 55750 55799 55902 55907 55959 5621 5648 5652 5660 56848 56886 56913 56963 56994 570 57016 57104 57126 5716 572 57214 5728 5730 5742 5743 5973 60481 60495 6185 6296 6319 6382 6391 6401 64083 64090 6441 64579 6470 6472 6480 6482 6487 6515 6517 6518 6519 6609 6614 6646 6652 6677 6713 6715 6716 6783 6820 683 6916 7087 7108 729238 7355 7365 7366 7367 7368 7372 7374 7412 7512 7903 79154 7941 79644 79888 7991 79947 79993 80142 80267 80896 811 821 8277 8310 83401 83666 8394 8398 8399 84317 8434 84649 847 84912 8509 8525 8560 8630 8644 8658 8693 8694 8702 873 8794 8801 8821 8877 89858 9104 912 9126 9197 9200 9254 929 93611 9365 9380 9420 945 9468 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:11120	psychologic dyspareunia Aliases: Dyspareunia, psychogenic Non-organic dyspareunia	ACE ACHE ACSS2 ALDH7A1 CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1	1012 148738 1588 1636 2026 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 6382 6646 9394	Homo sapiens (human)
DOID:8162	thyroid Hurthle cell adenoma Aliases: benign oncocytoma of the thyroid	NCAM1	4684	Homo sapiens (human)
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:8538	reticulosarcoma Aliases: histiocytic lymphoma large-cell Lymphomas	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALG1 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS HYAL2 ICAM1 IDH1 IDH2 KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 3383 3417 3418 347734 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 56052 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 8692 929 933 945 952 960	Homo sapiens (human)
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	ABO ACE ACOX1 ACSBG1 ACSF3 ALOX12 ALPI ALPP AMT ANXA5 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 LDHA LGALS1 LGALS3 LGALS9 LY6K MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 OGG1 OPCML PARP1 PARP4 PARP9 PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SHMT1 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10462 1056 10855 10998 1312 142 143 1543 1545 1555 1571 1576 1586 1604 160418 1636 197322 2026 2208 2215 2262 2271 23205 2331 23417 23583 239 248 250 2539 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 3073 308 3099 3161 3251 3383 3417 3418 347734 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4968 4978 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 5506 55556 56848 56994 57103 5728 5730 5743 6382 6401 6470 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:3172	papillary adenoma Aliases: glandular papilloma	ACACA ACE ACSL4 ADH1C AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX5 AMACR APRT ARSA BAAT CALR CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHGA CHI3L1 CHPT1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2C9 CYP2E1 CYP3A5 DHCR24 DLD DPEP1 ENO2 ENPP7 FUT4 FUT8 G6PC1 GALNT12 GFRA2 GLUL GPC3 GPNMB GPX1 GPX2 GUSB HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 IDH1 IGF2R KL LGALS1 LGALS3 LGALS4 LMAN1 LYZ MBD4 MGAT5 MGLL MPG MRC1 MTAP MUTYH NAGLU NAMPT NCAM1 NTHL1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGIS PTGS1 PTGS2 QPRT SDC2 SDHC SELL SHMT1 SLC26A2 SLC2A3 SLC33A1 SMUG1 SORD SPHK1 UGT1A1 UGT1A6 VCAN	1012 10135 10457 1048 10855 1087 1113 1116 11343 126 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1636 1718 1738 1800 1836 2026 217 2182 231 23475 23583 23600 239 240 2526 2530 2538 2675 2719 27306 2752 2876 2877 2990 31 3283 3290 3291 3292 3339 339221 3417 3482 353 3956 3958 3960 3998 4069 410 4249 4350 4360 4507 4595 4669 4680 4684 4913 4968 51478 5290 5291 5293 5294 54578 54658 56994 570 57016 5716 57214 5728 5740 5742 5743 6383 6391 6402 6470 6515 6652 79695 811 8877 8930 9197 9365 9469 960 972	Homo sapiens (human)
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:8533	hypopharynx cancer Aliases: Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx	ACACB ADH1B AKR1A1 ALDH2 CALR CD44 CYP1A1 GAPDH SMUG1	10327 125 1543 217 23583 2597 32 811 960	Homo sapiens (human)
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	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:161	keratosis	CAT HPGDS OGG1 PIK3CA SDHD SPTLC1	10558 27306 4968 5290 6392 847	Homo sapiens (human)
DOID:0110969	brachydactyly type B1 Aliases: BDB1	PARP1	142	Homo sapiens (human)
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)
DOID:0110449	dilated cardiomyopathy 1M Aliases: CMD1M	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:3756	protein C deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:14773	cartilage-hair hypoplasia Aliases: CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type	CAT CYP3A4 EBP HS6ST1 KLB	10682 152831 1576 847 9394	Homo sapiens (human)
DOID:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)
DOID:3305	teratocarcinoma Aliases: mixed Embryonal carcinoma and teratoma	A4GALT ACHE CAT CLEC10A FUT1 FUT4 PARP1 PLA2G2A PTGS2 RTN4R SPTLC2	10462 142 2523 2526 43 5320 53947 5743 65078 847 9517	Homo sapiens (human)
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	ABO ACE ACHE ALOX5 CALR COLEC11 CYP2B6 CYP51A1 FCN2 FDPS G6PD GCK GLUL LGALS3 LGALS9 MASP2 MBL2 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PRG2 PTGS2 RPIA SDC4 SIRT2 SMPD1 SOAT1 STS TPI1	10747 142 1555 1595 1636 2220 2224 22933 22934 23236 240 2539 2645 2752 28 3958 3965 412 4153 43 4860 4907 5290 5291 5293 5294 5332 5553 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)

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