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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 **3226 - 3250** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID: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:235	colonic benign neoplasm Aliases: Colonic Mass Colonic tumor colon neoplasm neoplasm of colon	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960	Homo sapiens (human)
DOID:0050458	juvenile myelomonocytic leukemia	ACHE CALR CD14 CD38 ETNK1 FCGR3B FUT1 FUT4 IL18R1 IL1R1 INPP5D LYZ MOGS PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SOAT1 XYLT2	142 2215 2523 2526 3554 3635 4069 43 5048 5290 5291 5293 5294 55500 5728 64132 6646 7841 811 8809 929 952	Homo sapiens (human)
DOID:1849	cannabis dependence	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS EXT1 FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2131 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)
DOID:8689	anorexia nervosa	ACACA AMY1A AMY1B AMY1C CD38 CNTN4 CNTN5 CNTN6 COMT CSGALNACT1 CYP17A1 CYP19A1 CYP2B6 EPHX2 ERLEC1 HSD11B2 HTR2A LYZ NTNG1 PARP9 PTGS2 SCD SGSH	1312 152330 1555 1586 1588 2053 22854 27248 27255 276 277 278 31 3291 3356 4069 53942 55790 5743 6319 6448 83666 952	Homo sapiens (human)
DOID:0080334	aortic valve disease 2	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG IDUA LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 81031 84572 8473 929 9469 9791	Homo sapiens (human)
DOID:5375	hair follicle neoplasm Aliases: Hair Matrix neoplasm Hair matrix tumour	MUTYH SDC1	4595 6382	Homo sapiens (human)
DOID:809	cocaine abuse	ABAT COMT EXTL3 FDFT1 GAD1 GAD2 HTR2A MANEA NPY1R NTNG1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 RECK SMUG1 UMOD	1312 18 2137 2222 22854 23583 2571 2572 3356 4886 5290 5291 5293 5294 5563 7369 79694 8434	Homo sapiens (human)
DOID:0110504	autosomal recessive nonsyndromic deafness 47 Aliases: DFNB47 autosomal recessive deafness 47	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:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A2	23545	Homo sapiens (human)
DOID:3664	mast cell neoplasm Aliases: Mast cell Proliferative disease mast cell tumor mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:3279	spindle cell thymoma Aliases: Medullary Thymoma Thymoma, medullary	PTEN	5728	Homo sapiens (human)
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 MTMR6 MTMR7 MTMR8 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55613 55624 64419 6517 79147 8776 8898 9107 9108 9200 9215 952	Homo sapiens (human)
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	Homo sapiens (human)
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:12663	blastomycosis Aliases: Blastomyces Dermatitidis Infection Blastomycotic infection Chicago disease Gilchrist's disease Infection by Blastomyces dermatitidis North American blastomycosis	CD209 CHST3 CLEC7A G6PD GPI ICAM1 LGALS3 SFTPD STS TPI1	2539 2821 30835 3383 3958 412 6441 64581 7167 9469	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:0110129	Bardet-Biedl syndrome 7 Aliases: BBS7	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0060276	pontocerebellar hypoplasia type 7	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0070141	autosomal recessive cutis laxa type II classic type Aliases: ARCL2, Debre type ARCL2, classic type	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:3222	causalgia Aliases: Complex regional pain syndrome, type II	SMUG1	23583	Homo sapiens (human)

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