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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 **3401 - 3425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:3144	cutis laxa Aliases: loose skin	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:11151	cholecystolithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:2300	spondylolysis	AGA SLC26A2	175 1836	Homo sapiens (human)
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S Aliases: LGMD2S muscular dystrophy, limb-girdle, type 2S	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:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ACE AKT1 ALOX15 ALOX5 APEX1 BAD CAT CSPG4 CYP19A1 ENO2 FCN1 G6PD GCDH GFRA1 GPNMB GPX1 ICAM1 IL6ST LGALS1 LGALS3 MBL2 MDH2 NAMPT PARP1 PCNA PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PRNP PTGIS PTGS1 PTGS2 SELE SLC33A1 TLR4	10135 10457 142 1464 1588 1636 2026 207 2219 240 246 2539 2639 2674 283871 2876 328 3383 3572 3956 3958 4153 4191 5111 5290 5291 5293 5294 5321 5373 5621 572 5740 5742 5743 6401 7099 847 9197	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:11504	autonomic neuropathy	ABO ACE ACHE ALDH3A2 ARSA B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	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:2559	opiate dependence Aliases: Opioid type dependence	ABAT ADH1B ALDH2 COMT CYP2B6 ENO2 GAD1 MDH2 NCAM1 NPY1R PARP9 PIK3CA PIK3CB PIK3CD PIK3CG RGMA	125 1312 1555 18 2026 217 2571 4191 4684 4886 5290 5291 5293 5294 56963 83666	Homo sapiens (human)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	ACE AKR1B1 CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PARP1 PCNA PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 142 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 231 2331 23583 2720 27306 3292 3294 3958 4051 4968 5111 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)
DOID:0090090	hypogonadotropic hypogonadism 19 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:870	neuropathy Aliases: peripheral neuropathy	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)
DOID:0050850	diabetic encephalopathy	GSK3B	2932	Homo sapiens (human)
DOID:3683	lung benign neoplasm Aliases: tumor of the lung	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ARSB ARSF ASAH1 ATP6AP2 ATRNL1 B3GAT1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHPT1 CHST15 CHST7 CLEC10A CLEC1B CNTN1 COG8 COLGALT2 COMT CPT1C CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT8 FUT9 G6PD GALC GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GGT5 GLB1 GLCE GLDC GLUL GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 HADHA HAS2 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKB KL KLRB1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYPD5 MBD4 MBL2 MCAT ME1 ME2 MGAT5 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TBXAS1 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1	100507436 1012 10159 10232 10327 10462 1048 10682 10690 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 126129 1272 128 130120 1312 135228 142 1462 146456 151056 152002 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1836 1890 1942 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 23127 23175 23205 23213 23409 2350 23509 23583 23600 242 248 250 2523 2524 2525 2526 2527 252969 2530 253782 2539 2581 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 2687 27087 2719 2720 27248 27294 27306 2731 27349 2752 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 3030 3037 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 411 412 4153 416 4199 4200 4249 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51266 5130 51363 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 64083 6440 6441 6470 6472 6480 6489 6515 6518 6523 653509 6646 670 6713 6783 683 6916 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	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: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:5304	ovarian clear cell adenocarcinoma	ANXA4 NEU3 PIK3CA	10825 307 5290	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)

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