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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 **2651 - 2675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)
DOID:13911	achromatopsia Aliases: ACHM Monochromatism	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:5214	demyelinating polyneuropathy Aliases: peripheral demyelinating neuropathy	ACO2 ARSA FIG4 IDH1 IDH2 MAG MTMR2 PRNP PTGS2	3417 3418 4099 410 50 5621 5743 8898 9896	Homo sapiens (human)
DOID:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 9469	Homo sapiens (human)
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CD14 CYP4F3 CYP51A1 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALM GALT GBE1 GK GLA GP2 GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PTEN PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 SLC5A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	130589 1595 178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2710 2717 27306 28 2813 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 5728 57818 5836 5837 6476 6514 6519 6523 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 929 9526	Homo sapiens (human)
DOID:17	musculoskeletal system disease	ACE ALPL ANXA5 CD44 CYP19A1 ENPP1 GALNT3 HSPG2 KL PTGS2	1588 1636 249 2591 308 3339 5167 5743 9365 960	Homo sapiens (human)
DOID:468	intramuscular hemangioma Aliases: Intramuscular Angioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	ACE ARSA CD14 CD1D CHI3L1 CHIT1 FCGR3B GALC GBA1 GBA2 GBA3 GLA GLB1 GPNMB HEXA IDUA INPP5K MAN1A1 MGAM OGA PAFAH1B1 PKLR PPT1 PSAP SI SMPD1 TNF UGCG UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10457 10724 1116 1118 1636 2215 2581 2629 2717 2720 3073 3425 410 4121 5048 51763 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 5538 5660 57704 57733 6476 6609 7124 7357 8972 912 929	Homo sapiens (human)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	ACE CHIT1 GBA1 GBA3 PAFAH1B1 PSAP UGCG	1118 1636 2629 5048 5660 57733 7357	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:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:10371	yaws Aliases: Bouba frambesia frambesia tropica frambosie polypapilloma tropicum thymosis	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:100	intestinal infectious disease Aliases: bacterial enteritis	APRT FDPS ICAM1 IL18R1 LCT LYZ PLA2G4A ST8SIA2	2224 3383 353 3938 4069 5321 8128 8809	Homo sapiens (human)
DOID:11446	sciatic neuropathy	CAT CERS2 CYP11A1 CYP17A1 GFRA1 GPX3 GSK3B HSD3B1 ICAM1 KCNJ11 MAG PCNA PPARGC1A REG3G RGMA TLR4 TNF	10891 130120 1583 1586 2674 2878 2932 29956 3283 3383 3767 4099 5111 56963 7099 7124 847	Homo sapiens (human)
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	EFNA5 PLA2G7	1946 7941	Homo sapiens (human)
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	ARSB CHAT EXT1 EXT2 EXTL2 EXTL3 GNS HGSNAT IDS IDUA NAGLU OGA SGSH SUMF1	10724 1103 138050 2131 2132 2135 2137 2799 285362 3423 3425 411 4669 6448	Homo sapiens (human)
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	ANXA4 CALR LGALS3 LSS MSLN PTGS2 ST3GAL1 TP53	10232 307 3958 4047 5743 6482 7157 811	Homo sapiens (human)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	CD14 CEACAM7 ST3GAL5 UGP2	1087 7360 8869 929	Homo sapiens (human)
DOID:0080011	bone resorption disease	CYP19A1	1588	Homo sapiens (human)
DOID:0110797	hereditary spastic paraplegia 45 Aliases: SPG45 SPG65 autosomal recessive spastic paraplegia 45 autosomal recessive spastic paraplegia type 45 autosomal recessive spastic paraplegia type 65	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	AMT DGAT1 GBE1 GPIHBP1 LCAT LPL PNPLA2	2632 275 338328 3931 4023 57104 8694	Homo sapiens (human)
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ACE ACSL6 AKR1C4 ALOX5 CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYP1A1 CYP2B6 ENPP1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL NCAM1 PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 23305 23583 240 2539 27306 3383 3417 3418 3956 3958 4023 4684 5130 51477 5167 5277 5290 5291 5293 5294 5329 57126 5728 6382 6646 811 847 8809 9023 945 952	Homo sapiens (human)

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