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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 **1076 - 1100** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	ACHE AKR1B10 CALR CHST3 COMT CYP4A11 CYP4F2 DLD G6PC3 ICAM1 PGP PIK3CA PTGS2 SELE STS	1312 1579 1738 283871 3383 412 43 5290 57016 5743 6401 811 8529 92579 9469	Homo sapiens (human)
DOID:12175	dyshormonogenic goiter Aliases: dyshormonogenic goitre	ALDH7A1 PTGDS SLC26A2	1836 501 5730	Homo sapiens (human)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ABO ACACA ACADM ACADSB ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADH1C ADH5 ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARSA ARSD ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CLEC10A CLEC4G CLGN CNTN1 CNTN3 CNTN4 COMT CPM CPT1A CPT1C CPT2 CRYL1 CSPG4 CYB5R3 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 DERA DGKA DHCR24 DHDDS DHRS11 DLAT DLD DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FIG4 FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT8 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPC1 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB H6PD HACD1 HADHB HAS1 HAS2 HJV HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST3A1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HYAL1 HYAL2 ICAM1 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 INPP4B INPP5D INPP5J INPP5K INPPL1 ISYNA1 KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN2C1 MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT5 MGLL MICA MMP17 MMP25 MPG MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NT5E NTHL1 OGA OGG1 OGT OLR1 OPCML PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB3 PFKFB4 PFKM PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G2A PLA2G4A PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP5 PNP PNPLA2 POFUT1 PPP1R3B PPT1 PRG2 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGM RECK RENBP RGN RPN2 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC2 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TALDO1 TBXAS1 TDG TIGAR TKT TKTL1 TM7SF2 TMED3 TMEM199 TMTC3 TNFRSF10C TNKS2 TNKS TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT2B15 UGT2B17 UGT2B7 UGT8 UMOD UMPS VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10462 1047 1048 1056 10610 10682 10724 10728 10855 1087 10873 11041 1109 1113 11141 11145 1116 1118 1119 11226 11332 11343 113612 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1629 1634 1636 1645 1646 166929 1718 1727 1737 1738 1800 1890 1892 1942 1943 1946 2023 2026 2131 2132 2137 217 218 2180 2182 219 2194 220 220074 2203 2215 226 22856 22914 22925 22933 231 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 2530 253782 2539 2572 25796 2583 2588 2597 26033 26035 2619 2651 2653 266722 2673 2674 2683 27036 27087 27124 2719 2720 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 2876 2877 2878 2882 28992 2923 2990 29940 29956 3032 3036 3037 307 308 3098 3099 31 310 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3340 3373 3383 339390 34 340075 3417 3418 3423 3425 347734 3482 353 3554 36 3612 3635 3636 3897 3906 3939 3945 3948 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4123 414 4153 4245 4249 427 43 4326 4350 4360 4507 4534 4595 4680 4684 47 4758 4860 4907 4913 4968 4973 4978 50 501 50515 50614 5067 5091 51071 51084 51144 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5209 5210 5213 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 54187 54575 54576 54578 54657 54658 54659 54742 54936 54965 5538 55512 5552 5553 5563 55750 55799 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56913 56965 56994 570 57016 57103 57104 57126 5716 57214 5728 5730 5740 5742 5743 57452 57818 5837 5973 6185 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7086 7108 7167 7355 7357 7358 7364 7366 7367 7368 7369 7372 7412 7903 79154 7923 79603 79623 79660 79679 79888 7991 79947 80201 80351 8050 81031 811 8128 81544 821 8277 8309 83539 83666 8396 8399 84002 8434 84513 847 84725 8473 84812 8482 8505 85365 8611 8630 8644 8658 8692 873 8733 874 8794 8809 8821 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9388 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 9896 9955	Homo sapiens (human)
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1 PNP	3251 353 4860	Homo sapiens (human)
DOID:2733	skin atrophy Aliases: Atrophoderma Atrophy - skin atrophic condition of skin	ACE CAT CD44 DCN DHCR24 GPI PIK3CA PIK3CB	1634 1636 1718 2821 5290 5291 847 960	Homo sapiens (human)
DOID:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	CERS6 GAPDH GFRA1 LDHA PRNP	253782 2597 2674 3939 5621	Homo sapiens (human)
DOID:4015	sarcomatoid carcinoma Aliases: spindle cell carcinoma	ABO ACACA ACACB ACE ACSL1 ACSL5 ACSM1 AGXT AKR1B10 AKR1B1 AKR1C3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 B3GAT1 B4GALNT2 BAAT C1GALT1 CACNA2D3 CALR CAT CBR1 CD109 CD14 CD1D CD248 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CERS2 CHGA CHPT1 CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP3A5 CYP3A7 CYP4F3 DAG1 DCN DCXR DHCR24 DHDH EFNA1 ENO1 ENO2 ENPP1 FASN FBP1 FCGR3B FH FOLR1 FUT1 FUT3 FUT4 FUT6 G6PC1 GALNT3 GALNT6 GAPDH GCNT1 GGT1 GLB1 GLO1 GLUL GOLPH3 GPC3 GPLD1 GPX2 GPX3 GUSB HAGH HAS1 HAS2 HAS3 HK2 HMGCS2 HMMR HPGDS HPSE HSD17B12 HSD3B1 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 INPP4B ITLN1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LMAN1 LPIN1 LPL LY6K LYPD5 LYPLA1 MAN2C1 MBD4 MCAT MDH2 MELTF MGAT5 MICA MINPP1 MMP25 MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PARP1 PDHA1 PDIA3 PFKM PGAM1 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLAUR PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP2 PNP PPP1R3A PRKAA2 PRNP PRPS1 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGM QTRT1 RECK SCD SDC1 SELE SFTPC SHMT1 SIGLEC12 SIGLEC9 SIRT2 SIRT6 SLC2A2 SLC35A2 SMC3 SMUG1 SPHK1 SPHK2 SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST8SIA4 STS TKT TKTL1 TM7SF2 TNKS TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS VCAN VTCN1	100507436 1012 10135 10232 1040 10402 10434 1048 10728 10825 10855 1087 1113 11226 116285 124872 128869 135228 1374 1376 142 1462 1543 1544 1545 1551 1571 1577 1586 1588 1591 1594 1604 1605 1634 1636 1718 189 1890 1942 2023 2026 217 218 2180 2194 2203 2215 226 2271 22933 231 23175 2348 23583 23600 240 246 247 248 250 2523 2525 2526 2528 2538 2591 2597 2650 2678 27087 27180 2719 2720 27294 27306 27349 2739 2752 28 2822 284348 2877 2878 2923 2990 29956 3029 3036 3037 3038 307 308 3099 31 3158 3161 32 3283 3339 3373 3383 3417 3418 353 3897 3939 3945 3956 3958 3960 3964 3965 3998 4023 4051 410 412 4123 4191 4241 4249 427 4350 4360 4507 4595 4680 4684 4758 4860 4907 4913 4968 4978 501 51144 51181 51196 51548 5160 5167 51703 5213 5223 5230 5289 5290 5291 5293 5294 5315 5319 5320 5329 5333 5335 5337 5338 54575 54576 54577 54578 54579 54600 54657 54658 54659 54742 5506 5552 55600 5563 55799 5621 5631 56848 56886 56913 56994 570 57016 57124 5728 5730 5742 5743 5837 6319 6382 6401 64083 64386 6440 6470 6480 6484 6514 7086 7108 7355 7364 7372 7903 79661 79679 811 81890 8277 8372 8398 8434 847 8612 8644 8658 8692 873 8821 8877 8930 89858 912 9126 929 952 9536 9562 960 972	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	CD38 PGK1	5230 952	Homo sapiens (human)
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	ABO ACACA ACE ACHE ACLY ACOT7 ACSL3 ADH1A ADH1B ADH4 ADPRH AGPAT2 AKR1C1 AKR1C3 AKT1 ALDH2 ALDH5A1 ALOX12 ALOX12B ALOX15 ALOX5 ALPP ANXA4 ANXA5 ANXA7 APEX1 ARF4 B4GALNT1 B4GALNT3 B4GALNT4 BDH2 BPHL BST1 C1GALT1 CALR CAT CBR1 CBR3 CD14 CD248 CD33 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHKA CHPT1 CHST11 CHST15 CHST3 CLEC10A CLEC14A CNTN2 CNTN4 COMT CPT2 CS CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 DCN DHCR24 DHDDS DPEP2 ECHDC1 EFNA1 ENOSF1 ENPP2 FASN FBP1 FCN2 FCN3 FOLR1 FOLR2 FUT1 FUT8 G6PC1 GALNT14 GALNT1 GALNT3 GALNT6 GALT GAPDH GBE1 GBGT1 GCNT3 GFPT2 GGT1 GLB1 GOLPH3 GPC1 GPC3 GPC5 GPC6 GPI GPX1 GPX3 GPX6 GUSB HACD1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B7 HSPG2 HYAL1 ICAM1 IDH1 IDH2 IDS IGF2R IL1R1 IMPA1 INPP4B IPMK KL KLRK1 L1CAM LCAT LDHA LGALS1 LGALS3 LGALS8 LY75 MAN1A1 MASP2 MBL2 MCAT MGAT3 MICA MRC1 MSLN MUTYH NCAM1 NEU1 NEU3 NT5E OGA OGG1 OPCML OVGP1 PARG PARP1 PCYT1A PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLAAT3 PLAUR PLB1 PLCG1 PLCZ1 PLPP1 PNP PNPLA2 PPAT PRKAA2 PRNP PRSS21 PRSS41 PRSS8 PSAP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SDC1 SELP SFTPD SHMT1 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SRD5A2 ST3GAL1 ST6GAL1 ST6GALNAC1 STS SULF1 SULT1E1 TFF1 TIPARP TKT TM7SF2 TNF TNFRSF10C TNKS TUSC3 TYMP UGCG UGT1A1 UGT2A1 UGT2A2 UMOD VCAM1 VCAN VTCN1	100507436 10082 1012 10232 10462 1048 10555 10724 10747 10825 10855 1087 10941 10942 11145 1116 1119 11226 11332 124 125 127 1312 1376 141 142 1431 1462 151056 152330 1543 1544 1545 1555 1558 1576 1577 1586 1588 1594 1604 161198 1634 1636 1645 1718 1890 1942 207 217 2181 2194 2203 2220 2262 22914 22933 23213 2348 2350 23583 239 240 242 246 250 2523 2530 253430 2538 257202 2583 2589 2591 2592 2597 25976 26301 2632 2678 2719 2720 27306 27349 28 2817 2821 283358 2876 2878 2923 2990 307 308 3099 31 310 3161 3251 328 3291 3292 3294 3339 3373 3383 338707 3417 3418 3423 3482 3554 360226 3612 378 3897 3931 3939 3956 3958 3964 4065 412 4121 4153 4248 43 4360 4595 4680 4684 47 4758 4860 4907 4968 4978 5016 50515 51144 5130 51363 51478 51548 5168 5230 5290 5291 5293 5294 5315 5319 5329 5335 54658 5471 55556 5563 55808 55862 5621 5652 5660 56898 56913 56994 57104 57124 57214 5728 5730 5742 5743 574537 5973 6319 6382 6403 64083 64174 6441 6470 6480 6482 6515 6517 6518 6609 6646 670 6716 6783 683 6900 7031 7086 7108 7124 7355 7357 7369 7412 7915 79623 79679 7991 79947 811 847 8505 8547 8611 8644 8658 873 874 8794 8821 8877 89869 9200 9245 929 9365 945 9469 960 9945 9956	Homo sapiens (human)
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	ABO ACACA ACACB ACAT1 ACE ACHE ACLY ACOT2 ACOT7 ACSL1 ACSS2 ADH1B ADH1C ADIPOQ ADRB3 AGA AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 AKT1 AKT2 ALDH2 ALDH6A1 ALDH7A1 ALDOB ALG1 ALOX12 ALOX5 ALPI ALPL ALPP AMACR AMY1A AMY1B AMY1C AMY2A ANXA5 APOD APRT ARSA ASAH2 ATP6AP2 ATRNL1 B4GALT5 BAAT BAD C1GALT1 CA4 CALR CANX CAT CBR1 CBR3 CD14 CD1D CD33 CD38 CD44 CD48 CD55 CDH13 CEACAM5 CEACAM7 CEL CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CHIT1 CHPT1 CHST3 CLEC16A CLEC1B COG2 COL9A2 COLEC12 COMT CPT1A CPT2 CRTC2 CS CYB5R4 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4F3 CYP7A1 CYP7B1 CYP8B1 DAG1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKB DGKD DGKQ DGKZ DHCR7 DLAT DLD DSE DSEL EBP ELOVL3 ELOVL4 ELOVL5 ELOVL6 ENO1 ENO2 ENPP1 EPHX2 EXT1 EXT2 FADS1 FADS2 FASN FBP1 FCGR3B FCN3 FDPS FOLR2 FUCA1 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT2 GALNT3 GAPDH GAS1 GCK GFPT1 GFPT2 GGT1 GHRL GK GLA GLB1 GLO1 GLUL GNPDA2 GNPNAT1 GPAT4 GPC5 GPD1 GPD2 GPI GPIHBP1 GPX1 GPX3 GSK3B GUSB GYG1 GYS1 H6PD HACD1 HADH HADHA HAS2 HAS3 HGSNAT HK1 HK2 HPGDS HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B3 HSD17B6 HSD17B7 HSD3B1 HSPG2 ICAM1 IDH3A IDH3B IGF2 IGF2R IL18R1 IL1R1 IMPA1 INPP5F INPPL1 INS IRS2 ISYNA1 ITLN1 ITPK1 KCNJ11 KCNQ1 KL KLB KLRK1 L1CAM LARGE1 LDHA LEP LEPR LGALS1 LGALS3 LGALS4 LIPA LIPC LIPG LPIN1 LPIN2 LPL LY75 LYPLA1 LYZ MAN1A1 MAN2A1 MASP1 MASP2 MBL2 MBOAT7 MCAT ME1 MGAM MGAT2 MGAT4A MGAT4C MGLL MICA MIOX MLYCD MOGAT2 MPG MPI MRC1 MSMO1 MTM1 MTMR3 MUTYH NAAA NAGLU NAMPT NANS NCAM1 NDST1 NEIL1 NR1D1 OGA OGG1 OGT OLR1 OXCT1 PAPSS2 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHB PDHX PDX1 PEMT PFKFB2 PFKFB3 PFKM PGM1 PGP PHOSPHO1 PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKD1 PKLR PKM PLA2G10 PLA2G15 PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB3 PLCD1 PLCG1 PLD1 PMM2 PNLIP PNPLA2 PNPLA3 PNPLA6 POMGNT1 PPARD PPARGC1A PPP1CA PPP1CC PPP1R3A PPP1R3B PPP1R3C PRKAA1 PRKAA2 PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGES2 PTGIS PTGS1 PTGS2 PYGB RBP4 REG1B REG3G RENBP RFT1 RPE RPN2 RTN4RL1 SACM1L SCD5 SCD SDC1 SDC2 SDC4 SDHA SDHB SELE SELL SELP SERPINA12 SFTPD SGMS1 SI SIGLEC1 SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A12 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35B3 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 SRD5A1 SRD5A2 SRGN ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC3 ST8SIA4 STS SUCLA2 SULF2 SULT1E1 TALDO1 THEM4 TKFC TKT TKTL1 TKTL2 TLR4 TM7SF2 TNF TNKS2 TREH TYMP UCP2 UGCG UGGT2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B15 UMOD UPP1 UPP2 VCAM1 VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10400 10434 1048 10555 10558 10559 1056 10682 10724 10747 10855 10858 1087 10891 10908 10942 10965 1103 1113 1116 1118 11181 11320 11332 11343 117145 120227 123099 125 126 1298 130120 1312 132789 1374 1376 137964 138050 142 1431 145264 146760 151056 151531 152831 154091 1543 1544 1545 155 1555 1557 1558 1559 1571 1573 1576 1577 1581 1582 1583 1585 1586 1588 1589 1591 1593 159371 1594 1604 1605 1607 1609 162466 1634 1636 1646 1650 1717 1737 1738 175 1890 200186 2023 2026 2053 207 208 2131 2132 217 2180 2194 2203 2215 2224 2262 22796 22876 229 22908 22914 22933 231 23175 23274 23409 23417 2350 23583 23600 23659 239 240 248 249 250 2517 2524 253782 2538 2539 2542 256435 2571 2572 25834 2588 2590 2591 259230 2597 26007 26033 2619 2645 26503 266722 2673 2678 27036 2710 27163 2717 2720 27306 27349 2739 2752 276 277 278 279 28 2819 2820 2821 283871 2876 2878 2932 2990 2992 29940 29956 2997 3030 3033 3037 3038 308 3098 3099 31 32 3283 3290 3291 3293 3339 3340 3383 338328 3419 3420 347 3481 3482 353 3554 3612 3630 3636 3651 3705 3767 3784 38 3897 3939 3952 3953 3956 3958 3960 3988 3990 3992 4023 4051 4065 4069 410 412 4121 4124 4153 4199 4247 43 4329 4350 4351 4360 4534 4595 4669 4684 47 4968 4973 501 5019 5091 51000 5105 5106 51144 51167 51266 5130 51477 51478 51548 5162 5167 51738 5208 5209 5213 5236 5286 5288 5289 5290 5291 5293 5294 5310 5313 5315 5320 5321 5329 5331 5333 5335 5337 5373 5406 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 5467 5499 5501 5506 5507 5552 55586 55600 5562 55624 5563 55757 55902 55959 56052 5648 5652 56624 56848 56913 56994 570 57016 57104 5716 572 5728 5730 5740 5742 5743 57818 5834 5950 5968 5973 60481 6120 6185 6307 6319 6382 6383 6385 6389 6390 6401 6402 6403 64116 64131 64132 6441 6476 6480 6484 64841 6487 6513 6514 6515 6517 6518 6519 6523 6609 6614 6646 6652 6715 6716 6718 6783 6785 6888 7086 7099 7108 7124 7351 7357 7366 7369 7378 7412 762 7903 79071 79143 7941 79660 79661 79679 79966 80142 80168 80339 80351 8050 81031 81035 811 821 8277 83401 8395 8398 8399 84076 847 8473 8525 8527 8547 8560 8630 8660 8694 873 874 8778 8803 8809 8877 8897 8972 9023 9060 912 91869 9197 9200 92126 9215 929 9334 9365 9370 9388 9394 9415 9420 945 9468 9469 9514 952 9563 9572 960 962 9663 9945 9993	Homo sapiens (human)
DOID:6263	inflammatory breast carcinoma Aliases: Inflammatory carcinoma of breast Mastitis carcinomatosa	B3GAT1 CD44 CTSA CYP1B1 DHCR24 GLO1 GPX3 HAGH IDH2 INPP4B PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE	142 1545 1718 27087 2739 2878 3029 3418 5290 5291 5293 5294 5476 5728 5743 6382 6401 8821 960	Homo sapiens (human)
DOID:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)
DOID:0081292	traumatic brain injury	BAD TP53	572 7157	Homo sapiens (human)
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	ABO AKT1 PTEN PTGS2 SMUG1	207 23583 28 5728 5743	Homo sapiens (human)
DOID:1729	retinal vascular occlusion Aliases: Retinal vasc. occlusion	CALR CNTN2 PIK3CA	5290 6900 811	Homo sapiens (human)
DOID:0080626	corticosterone methyloxidase deficiency 1 Aliases: aldosterone synthase deficiency	CYP11B2	1585	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ACE ANXA5 ARSF B3GLCT CALR CD93 CHI3L1 CYP21A2 ELOVL4 FUT6 GPX3 HPGDS LIPC MASP2 PLA2G12A PNPLA2 TLR2	10747 1116 145173 1589 1636 22918 2528 27306 2878 308 3990 416 57104 6785 7097 811 81579	Homo sapiens (human)
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	MTAP	4507	Homo sapiens (human)
DOID:12785	diabetic polyneuropathy Aliases: Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)

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