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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 **2526 - 2550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3953	adrenal gland cancer Aliases: adrenal cancer adrenal neoplasm malignant Adrenal tumor malignant neoplasm of adrenal gland neoplasm of adrenal gland tumor of the Adrenal gland	ACACA ACE ACO1 APRT CAT CD44 CHGA CHST3 CNTN4 COMT CS CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP4F3 DGCR2 DHCR24 DHRS11 DLST FH G6PD GUSB HPSE HSD11B1 HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SLC33A1 SMPD1 SMUG1 SORD	10855 1113 1312 142 1431 152330 1584 1585 1586 1588 1589 1636 1718 1743 2271 23583 2539 2990 31 3290 3417 3418 353 3897 3958 4051 4191 48 51478 5290 5291 5293 5294 5311 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9197 9469 960 9993	Homo sapiens (human)
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	CAT TLR2 TLR4	7097 7099 847	Homo sapiens (human)
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	ABAT ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADIPOQ ADRB3 AGPS AGRN AKR1A1 AKR1B1 AKR1C2 AKR1C4 AKR7A2 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ALPI ALPP ANXA5 APOD APRT ARSA ASAH1 ASAH2 ATRNL1 B3GALT4 B3GAT1 BAD BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CFC1 CH25H CHAT CHI3L1 CHIT1 CHPT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP51A1 CYP7B1 CYP8B1 DAG1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 EBP EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GCG GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GSK3B GSTO1 GSTO2 GTDC1 GUSB H6PD HADHA HADHB HAS1 HAS3 HK1 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B2 HSPG2 HTR2A HYI ICAM1 IDH1 IDH2 IDUA IGF2 IGF2R IL1R1 IL1RAP IL1RL1 IL6ST IMPA1 INPP5D INPP5K INPPL1 INS IPMK IRS2 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LEP LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MAPK14 MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAGLU NAMPT NANS NCAM1 NDUFAB1 NEIL1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPARA PPARGC1A PPP1R3A PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SDHB SELE SELL SELP SFTPA1 SFTPC SGMS2 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A1 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SULT1E1 SYNJ1 TGDS TIGAR TKT TLR4 TM7SF2 TMED9 TNF TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10195 10327 10400 10457 10466 1048 10558 10559 10682 10715 10724 10728 10855 10858 1087 10891 1103 1109 1116 1118 11332 11343 1178 119391 1203 1272 130749 1312 131375 132789 1374 142 1431 1432 1462 1464 1497 151056 1544 155 1555 1559 1573 1576 1582 1583 1586 1588 1593 1595 1604 1605 1609 1634 1636 1646 166929 1718 1738 1743 18 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 22933 231 23127 23236 23274 23305 23483 2350 23583 23646 23659 239 240 246 248 250 253430 2539 2571 2572 2588 2597 26033 26232 2629 26330 2641 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2932 2990 3030 3032 3036 3038 308 30835 3098 31 3158 3251 3284 3290 3292 3293 3295 3339 3356 3383 3417 3418 3425 346606 347 3481 3482 353 3554 3556 3572 3612 3630 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3952 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4669 4680 4684 4706 4758 48 4860 4907 4967 4968 4973 50 501 5048 5049 5091 5105 51084 51196 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5310 5315 5319 5320 5321 5329 5333 5335 5336 5337 5338 5373 54187 5465 54658 54732 5506 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56624 56848 56994 57103 57104 57126 572 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 6390 6401 6402 6403 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6513 6515 6517 653509 6609 6610 6646 6652 6713 6783 683 6900 7086 7099 7108 7124 7167 7355 7357 7369 7374 7412 79154 7941 7957 79661 79712 79947 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8574 8630 8660 8705 8733 8801 8803 8867 8877 8879 9023 9104 9173 9197 929 9365 9370 9388 9420 9446 945 9468 952 9536 9563 960 9672 972 9791 9957	Homo sapiens (human)
DOID:848	arthritis Aliases: Inflammatory disorder of joint	ABAT ABO ACAA2 ACACA ACAN ACE ACLY ACO1 ACSL4 ACSL6 AGA AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ASAH1 B3GAT1 B4GALNT3 B4GALT7 BCKDHA BST2 CALR CAT CD14 CD209 CD22 CD248 CD38 CD44 CD55 CD74 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHST11 CHST13 CHST3 CHST4 CLC CLEC12A CLEC3A CLEC4E CLEC5A CLEC7A CNTN1 CNTN2 COG5 COL9A2 COMT CPT2 CSPG4 CYP19A1 CYP1B1 CYP2B6 CYP7B1 DCN DCXR DPEP1 ENO1 ENPP1 ENPP2 EXT1 EXT2 FASN FCGR3B FCN1 FH FMOD FUT1 FUT2 GAL3ST1 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 GUSB GYS1 HADHA HAS1 HIBCH HJV HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSD11B2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IL18R1 IL1R1 IL1RL2 INPP5D ISYNA1 KL KLRB1 LACC1 LAYN LCTL LGALS1 LGALS3 LGALS8 LGALS9 LYZ MASP1 MBL2 MMP17 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PDHA1 PDIA3 PFKFB3 PGAM1 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4F PLA2G6 PLAUR PLB1 PLCD1 PLCG1 PLD1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SELL SFTPD SGSH SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL5 STS SULF1 SULF2 TKTL1 TLR4 TM7SF2 TNKS TPI1 UST VCAM1 VCAN VTCN1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 11285 1178 1272 1298 1312 1376 142 143903 144811 1462 1464 148738 151056 1545 1555 1588 160364 1604 1634 1636 1645 1646 166012 175 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 2219 226 2271 22933 23171 23193 23213 23305 2331 23583 23601 240 246 249 2523 2524 255189 2597 26253 26275 2629 2645 26503 2678 27036 27087 27163 2717 27180 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 2990 2997 3030 3036 308 30835 3098 3099 31 3161 3251 3290 3291 3373 3383 3418 3419 353 3554 3635 3820 3956 3958 3964 3965 4069 410 412 4153 417 427 4326 4360 4595 4684 47 48 4907 4952 4973 4978 50515 51181 51477 51548 5160 5167 5168 5209 5223 5290 5291 5293 5294 5315 5319 5320 5321 5329 5333 5335 5337 5552 5563 55830 55959 5621 5648 56848 57124 57214 5728 5730 5742 5743 593 5973 6382 6385 6389 6401 6402 64116 64131 64386 6441 6448 64581 6472 6646 684 6900 7099 7108 7167 7412 79679 79966 80339 811 8277 8398 8399 8434 847 8658 8692 8808 8809 8869 8877 90161 9023 9060 9091 929 933 9365 9420 9469 9514 952 9536 960 972	Homo sapiens (human)
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	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:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	AKR1C4 CEL ICAM1 INPP5E MBL2 NCAM1 NT5E NTM PARP9 PNPLA2 SCD5 SDC1 SLC27A5	1056 10998 1109 3383 4153 4684 4907 50863 56623 57104 6382 79966 83666	Homo sapiens (human)
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	MGAT2 PGAP1	4247 80055	Homo sapiens (human)
DOID:0060448	Fleck corneal dystrophy Aliases: FCD Francois-Neetens speckled corneal dystrophy	FCN2 FOLR2 GCDH PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE SMUG1 UGT1A4	200576 2220 2350 23583 2639 5290 5291 5293 5294 54657	Homo sapiens (human)
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GAD1 GCDH	2571 2639	Homo sapiens (human)
DOID:10376	amblyopia Aliases: lazy eye	B3GAT3 CHST3 COL9A2 GALC GMPPB OCRL OGT PIGN PPARGC1A XYLT2	10891 1298 23556 2581 26229 29925 4952 64132 8473 9469	Homo sapiens (human)
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	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:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT1 BST1 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPNMB GPX1 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LGALS1 LGALS3 LGALS4 LYPD5 MAG MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PRKAA2 PRNP PSAP PTEN PTGES3 PTGES PTGS2 RENBP RGMA RTN4R SARM1 SCD SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST8SIA4 STBD1 SUCLA2 SYNJ1 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10908 1103 1116 1118 11332 11343 125 126 127 1272 131 1312 132789 142 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 217 2194 2203 2208 2215 22876 22933 23098 23205 23583 2539 2571 2572 2581 2583 2588 2597 26232 2629 2673 27036 27087 2717 2720 27306 27349 2752 283871 284348 2876 2923 3037 3073 308 3098 3099 31 3383 3425 3482 353 3897 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 51477 51478 5160 51763 5230 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5563 5621 5660 56963 57103 5728 5743 57704 5973 6319 64116 64132 6470 6472 6476 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8803 8867 8987 9197 929 9365 952 9536 960	Homo sapiens (human)
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma	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:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	PIK3CA PTGES	5290 9536	Homo sapiens (human)
DOID:8233	inflammatory liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	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:13272	Klebsiella pneumonia Aliases: Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder)	CD44 GPX1 MBL2	2876 4153 960	Homo sapiens (human)
DOID:13206	nodular prostate	ACE ACSS2 AKR1B10 ALDH7A1 ALOX12 ALOX15 ALOX15B ALOX5 AMACR ANXA7 CANX CAT CD177 CD44 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP2B6 CYP3A4 CYP3A5 EFNA2 ELOVL6 ENO2 ENPP1 ENPP2 GALNT3 GGT1 GLCE GOLPH3 GPC1 HMMR HPGDS HPSE HSD17B1 HSD17B2 HSD17B3 HSD17B7 ISYNA1 KLB LDHA LGALS8 LPL LYZ MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLD1 PRG2 PTEN PTGS2 RECK RENBP SLC33A1 SRD5A1 SRD5A2 STS SULF1 SULT1E1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 UGT2B17 VCAN	10855 1312 1462 152831 1543 1545 1555 1576 1577 1583 1586 1588 1636 1943 2026 23213 23600 23659 239 240 246 247 2591 26035 2678 27306 2817 310 3161 3292 3293 3294 3939 3964 4023 4069 412 4360 501 51477 51478 5167 5168 5290 5291 5293 5294 5337 54575 54576 54577 54578 54657 54658 5553 55902 57016 57126 5728 5743 5973 64083 6715 6716 6783 7366 7367 79071 821 8434 847 9197 960	Homo sapiens (human)
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	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:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADH1B CD74 COL9A2 COMT DGCR2 GAS1 GPC6 GSK3B ICAM1 IDH1 IDH2 IL18RAP LDHA LGALS3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIRT2 SIRT6 SRGN SULF1 TIGAR XYLT1	10082 125 1298 1312 176 22933 23213 2619 283871 2932 3383 3417 3418 3939 3958 51548 5290 5291 5293 5294 5552 57103 5728 5743 64131 8807 972 9993	Homo sapiens (human)
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	A4GALT ABAT ABO ACE ACSL5 ACSL6 ALPI ALPP CALR CD109 CD22 CD38 CD44 CD74 CEACAM5 CEACAM7 CEL CERS6 CHI3L1 CHKA CHST9 COG1 CYP2B6 CYP2C19 CYP2J2 EBP FCGR3B FOLR2 FUT1 G6PD GPI HPGDS ICAM1 IDH1 IDH2 INPP5D KL KLRC1 LGALS3 LPL MICA MRC1 MSLN NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PPP1R3A PRKAA2 PTEN PTGS2 RECK SDC1 SELP SFTPA1 SIRT6 SOAT1 SPACA3 SPHK2 TP53 UGCG UGT1A4 UGT2B17	100507436 10232 1048 1056 10682 1087 1116 1119 124912 135228 142 1555 1557 1573 1636 18 2215 23305 2350 248 250 2523 253782 2539 27306 28 2821 3383 3417 3418 3635 3821 3958 4023 4360 4684 4860 5048 5130 51548 51703 5290 5291 5293 5294 5305 53947 54657 5506 5563 56848 5728 5743 6382 6403 653509 6646 7157 7357 7367 811 83539 8434 933 9365 9382 952 960 972	Homo sapiens (human)
DOID:0110576	autosomal dominant nonsyndromic deafness 50 Aliases: DFNA50 autosomal dominant deafness 50	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:8353	epithelioid malignant peripheral nerve sheath tumor Aliases: epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath	CD38 CD44 CEACAM5 CHSY1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RECK SMUG1 SOAT1	10038 1048 142 1634 22856 23583 2539 3161 3554 3956 4684 5290 5291 5293 5294 5728 6646 8434 952 960	Homo sapiens (human)

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