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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 **301 - 325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:12549	hepatitis A Aliases: Viral hepatitis, type A	ACE ACOT7 AKR1D1 ALDH2 CALR CAT CD1D COLGALT2 CYP19A1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DLAT ECHS1 EXT1 FUT8 G6PD GOLPH3 GPC3 HAS1 HAS3 HPGDS KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 MICA MRC1 NAMPT NCAM1 OGG1 PARP1 PARP2 PTGES PTGS2 SGMS1 SLC17A5 TIPARP TNF UGT1A1 UMOD	10038 100507436 10135 11332 142 1555 1557 1559 1571 1588 1593 1636 1737 1892 2131 217 22914 23127 2530 2539 259230 25976 26503 2719 27306 3036 3038 3820 3821 3956 3958 3965 4360 4684 4968 54658 5743 64083 6718 7124 7369 811 847 912 9536	Homo sapiens (human)
DOID:14227	azoospermia	ALPI ALPP ART3 CACNA2D1 CAT CD44 CYP19A1 DPY19L2 ELOVL6 FUT1 HJV HPGDS ISYNA1 MICA NDST1 NDST2 NDST3 NDST4 OCRL PARP2 PDHA2 PGD PGK2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCH2 SCP2 SRD5A2 STS TEX101	10038 100507436 148738 1588 248 250 2523 27306 283417 3340 412 419 4952 51477 5161 5226 5232 5290 5291 5293 5294 5310 6342 64579 6716 781 79071 83639 847 8509 9348 960 9651	Homo sapiens (human)
DOID:9970	obesity	AACS ABO ACACA ACACB ACADM ACADVL ACAN ACAT1 ACE ACHE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADIPOQ ADRB3 AGPAT2 AKR1A1 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1B1 ALDH2 ALDH6A1 ALDOB ALG13 ALOX12 ALOX5 ALPL AMACR AMY1A AMY1B AMY1C APOD APRT ARSA ARSD ASAH1 ASAH2 ATP6AP2 ATRN B4GALT5 BAAT BAD CA4 CALR CANX CAT CBR1 CD14 CD1D CD248 CD33 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CERK CERS6 CHGA CHI3L1 CHIT1 CHPT1 CHST3 CLEC7A CMAS CNTN3 CNTN4 COMT CPT1A CPT1C CPT2 CS CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DEGS2 DGAT1 DGAT2 DGKE DGKG EBP ECHS1 ELOVL5 ELOVL6 ENO2 ENPP1 ENPP2 FADS1 FADS2 FASN FCGR3B FDFT1 FDPS G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GAPDH GCK GFPT1 GGT1 GHRL GK GLB1 GLDC GLO1 GLUL GNPDA2 GPAM GPAT3 GPCPD1 GPD1 GPIHBP1 GPX1 GPX3 H6PD HADH HADHA HAS2 HEXA HGSNAT HJV HK1 HK2 HMGCS1 HPGDS HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B3 HSD17B4 HSPG2 HTR2A ICAM1 IDH3A IDH3B IL1R1 IL1RAP IL1RAPL1 INPP5E INPPL1 ITLN1 KHK KL KLB LALBA LCAT LCT LEP LEPR LGALS1 LGALS3 LIPA LIPC LIPG LPGAT1 LPIN1 LPIN2 LPIN3 LPL LY75 MACROD2 MBL2 MBOAT7 MCAT ME1 MGAM MGAT1 MGAT2 MGLL MIOX MLYCD MMUT MOGS MRC1 MSMO1 MTMR14 NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NPY1R OGA OGG1 OGT OLR1 OXCT1 PARP1 PARP2 PARP9 PC PCK1 PCK2 PDX1 PEMT PFKFB3 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G2A PLA2G2E PLA2G4A PLA2G5 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PNLIP PNPLA2 PNPLA3 PNPLA6 POMGNT1 PPARA PPARGC1A PPP1R3B PPP1R3G PRKAA1 PRKAA2 PRNP PTEN PTGDS PTGES2 PTGES PTGS1 PTGS2 RBP4 RENBP RGMA SCD SCP2 SDC1 SDC2 SDC3 SELP SERPINA12 SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC12 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35B2 SLC35D3 SLC35G1 SLC37A4 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRD5A1 ST6GAL1 STS SUCLA2 SULF2 SULT1E1 TIGAR TKTL1 TLR4 TM7SF2 TNF TNKS UCP2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 VCAM1 WDTC1 XXYLT1 XYLT2	10038 1012 10135 10159 10327 10390 10400 1048 10555 10559 1056 10682 10724 10855 10891 10908 10998 1113 11141 1116 1118 11343 120227 123099 125 126129 1312 132789 1374 1376 138050 140733 142 1431 145264 148738 151056 152002 152330 152831 1543 1544 1545 155 1555 1559 1571 1576 1581 1583 1588 1589 1591 1593 159371 1594 1605 1608 1634 1636 1645 1646 166929 176 1892 2026 208 217 2180 2182 219 2194 2215 2222 2224 229 22933 23038 231 23175 23236 23409 23417 23583 23600 23659 239 240 249 253782 2538 2539 2542 2572 2590 2597 2645 26503 266722 2673 2678 2710 27163 2720 27306 2731 27349 2739 2752 276 277 278 28 2819 2876 2878 3030 3033 3037 3073 30814 3098 3099 31 3157 32 3290 3291 3292 3293 3295 3339 3356 3383 338328 34 340146 3419 3420 347 347734 353 3554 3556 3636 3651 37 3795 38 3906 3931 3938 3952 3953 3956 3958 3988 3990 3992 4023 4051 4065 410 412 414 4153 4199 4245 4247 427 43 4329 4360 4594 4684 47 4706 4886 4968 4973 5019 5067 5091 51 5105 5106 51144 51548 5167 5168 51703 51738 5209 5214 5290 5291 5293 5294 5310 5315 5320 5321 5322 5329 5330 5331 5337 5406 54187 54575 54576 54577 54578 54579 54600 5465 54657 54658 54659 55586 55600 5562 55624 5563 55902 55907 55959 5621 56261 56623 56624 56848 56963 56994 570 57103 57104 57124 572 5728 5730 5742 5743 57678 5950 5973 60481 6296 6307 6319 6342 6382 6383 6403 64132 6441 64419 64581 6476 64781 6480 648791 64900 6513 6514 6515 6517 6518 6523 653509 65985 6609 6646 6715 6783 7099 7108 7124 729238 7351 7412 762 7841 79071 79143 7941 79660 79661 79868 80142 80339 811 821 8277 83666 8455 84649 847 8473 84803 8526 8529 8560 8644 8658 8694 873 8803 8877 8879 8972 89858 912 9197 929 9334 9365 9370 9388 9394 9415 945 9469 9514 952 9536 9563 960 962 9663 9672 972 9926	Homo sapiens (human)
DOID:0014667	disease of metabolism Aliases: metabolic disease	ACACA ACADM ACAT1 ACE ACHE ACLY ACOX1 ACSF3 ADH1B AGL AGXT AKR1C3 AKR1D1 AMT APRT ARSA BAAT CAT CD14 CD248 CD38 CD74 CDH13 CEACAM5 CERS6 CFC1 COL9A2 CPT1A CPT2 CTNS CYP11B1 CYP11B2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP7A1 CYP7B1 CYP8B1 DGAT1 DLD ECHS1 ELOVL6 ENO3 ENPP2 FASN G6PC1 G6PD GAA GAD2 GALC GALK1 GALNS GALNT3 GALNT8 GALT GBE1 GCDH GCK GLA GLDC GLUL GNPTAB GPIHBP1 GPX1 GPX3 GYG1 GYS2 HADH HADHA HSD11B1 HSD11B2 IDH1 IDH2 IDUA INPP5K INPPL1 INS KHK KL KLB L2HGDH LCAT LDHA LDHAL6A LDHAL6B LDHB LDHC LGALS3 LPIN2 LPL MACROD1 MBD4 MCEE MGAT1 MGAT2 MGAT4A MMUT MOGAT2 MRC1 NAMPT OGG1 OLR1 PARP1 PARP2 PCCA PCCB PCK2 PDHA1 PDHA2 PDHX PFKL PFKM PFKP PGAM2 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G4A PMM2 PNP PNPLA2 PNPLA3 PRKAA2 PRPS1 PTEN PTGES PTGS2 PYGM RPIA SARM1 SCD SFTPD SI SIGLEC12 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A4 SLC2A5 SLC37A4 SLC5A1 SMPD1 SMUG1 SORD ST3GAL4 STS SULF1 SULT1E1 TALDO1 TM7SF2 TPI1 UMPS VCAM1 VNN1 VNN2	10038 1012 10135 1048 11320 125 1298 1374 1376 142 1497 152831 1545 1555 1557 1559 1581 1582 1584 1585 1589 160287 1636 1738 178 1836 189 1892 197322 2027 2194 22934 23098 23213 23409 23583 253782 2538 2539 2542 2548 2572 2581 2584 2588 2591 2592 26290 2632 2639 2645 26503 2717 2731 275 2752 283871 2876 2878 28992 2992 2998 3030 3033 31 3290 3291 338328 34 3417 3418 3425 353 3630 3636 3795 38 3931 3939 3945 3948 3958 4023 410 412 4245 4247 43 4360 4594 47 4860 4968 4973 5095 5096 51 5106 51548 5160 5161 5168 51763 5211 5213 5214 5224 5236 5290 5291 5293 5294 5310 5313 5315 5321 5373 5563 55997 5631 570 57104 57124 5728 5743 5837 6319 6441 6476 6484 6514 6517 6518 6523 6609 6652 6718 6783 6888 7108 7167 7372 7412 79071 79158 79944 80168 80339 8050 84693 847 8644 8694 8875 8876 8930 89858 92483 929 9365 9420 952 9536 9663 972	Homo sapiens (human)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 AKT1 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 GPX3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 207 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 2878 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	ABO ACACA ACE ACSS2 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C3 ALDH2 ALOX15B ANXA7 ARSA B3GAT1 BDH2 C1GALT1 CALR CD38 CDH13 CEACAM5 CEACAM7 CHGA CHST15 CNTN1 COG8 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2C19 CYP2C9 CYP2E1 CYP3A5 DAG1 DCN DEGS1 DGKH DHCR24 ENO1 FASN G6PD GAPDH GML GOLPH3 HPGDS HPRT1 HPSE HSPG2 ICAM1 ICAM2 IL18R1 LGALS3 LGALS9 LY6K MAN2C1 MRC1 MTAP NANP NANS NEIL1 OGG1 PARP1 PARP2 PCYT1A PDHA1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G2A PLCE1 PLOD3 PNP PRKAA2 PSMD10 PTEN PTGES3 PTGES PTGS1 PTGS2 RECK RPN2 SDHA SDHB SDHC SHMT2 SIGLEC1 SIRT6 SLC35A2 SMUG1 SOAT1 ST6GAL1 ST6GAL2 ST8SIA4 TM7SF2 TUSC3 UGT1A1 UGT1A8 UGT2B4 UMOD UMPS UNG VTCN1	10038 1012 10327 1048 10728 10855 1087 1113 125 126 127 1272 131 140838 142 1543 1545 1557 1559 1571 1577 1588 1591 1605 160851 1634 1636 1718 2023 217 2194 23583 23659 247 2539 2597 27087 27306 2765 28 31 310 3251 3339 3383 3384 3958 3965 410 4123 4360 4507 4860 4968 51196 5130 51363 51548 5160 5226 5230 5290 5291 5293 5294 5315 5320 54187 54576 54658 54742 5563 55902 56898 56913 57016 5716 5728 5742 5743 6185 6389 6390 6391 64083 6472 6480 6614 6646 7108 7355 7363 7369 7372 7374 7903 79661 79679 7991 811 8434 84342 84620 8560 8644 8809 8985 952 9536	Homo sapiens (human)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	AACS ABO ACACA ACACB ACADL ACADM ACADVL ACAT1 ACE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSS2 ADH1A ADH1B ADH4 ADIPOQ AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1D1 ALDH1A3 ALDH1B1 ALDH2 ALDOB ALOX12 ALOX5 ALPL ALPP APRT ART3 ATP6AP1 ATRNL1 B3GAT1 BAAT CAT CBR1 CD14 CD1D CD44 CDIPT CEL CERS1 CERS2 CERS6 CHIT1 CHKA CHPT1 CMAS CPT1A CPT1B CPT1C CPT2 CS CTSA CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP4A11 CYP4F2 CYP4F3 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DGAT1 DGAT2 DHDDS DHRS11 DLAT EBP ELOVL2 ELOVL5 ELOVL6 ENO2 ENO3 ENPP1 ETNPPL FADS1 FADS2 FASN FBP1 FCGR3B FDFT1 FOLR2 FUT4 G6PC1 G6PD GCK GGT1 GLB1 GLUL GPAM GPC3 GPD1 GPD1L GPI GPX1 H6PD HACD1 HADH HADHA HADHB HAS3 HJV HKDC1 HPGDS HPSE HSD11B1 HSD17B4 HSD17B7 HSPG2 HTR2A ICAM1 IDH2 INPP5D INS ISYNA1 KDSR KHK KLB LALBA LCAT LEP LGALS3 LIPA LPIN1 LPL MBOAT7 MCAT MGLL MIOX MLYCD MOGAT1 MOGAT3 MPI MRC1 NAAA NAMPT NCAN NEIL1 NEU1 OGT OPCML PARP1 PARP2 PC PCK1 PCK2 PDIA3 PEMT PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLA2G7 PLCG1 PMM2 PNPLA2 PNPLA3 PNPLA6 PPARA PPARGC1A PPP1R3B PPP1R3C PPP1R3G PRKAA2 PSMD10 PTEN PTGS1 PTGS2 REG3G RENBP SARM1 SCD SCP2 SELE SELL SGMS2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A12 SLC2A2 SLC2A4 SLC2A8 SLC35A2 SMPD1 SMUG1 SOAT2 SORD SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA4 STS SULF1 SULT1E1 THEM5 TM7SF2 TMEM199 TREH UCP2 UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1 VNN1 XYLT2	10038 10135 10327 10400 10423 10554 10555 1056 10682 10715 10855 10891 10908 10998 1118 11181 1119 11343 116255 120227 124 125 126129 127 130120 1374 1375 1376 142 1431 1463 147007 148738 152831 154091 1543 1544 1545 1555 1571 1573 1576 1579 1581 1582 1586 1588 1594 1634 1636 1650 166929 1737 2026 2027 217 2180 2182 219 2194 220 2203 2215 2222 229 22933 23098 231 23171 23175 23213 23409 23417 2350 23583 239 240 249 250 2526 2531 253782 2538 2539 26033 2645 26503 2678 27036 27087 27163 2719 2720 27306 27349 2752 28 2819 2821 284486 2876 2923 29956 29988 3030 3032 3033 3038 31 32 3290 3295 33 3339 3356 3383 34 3418 346606 353 3630 3635 37 3795 38 3906 3931 3952 3958 3988 3992 4023 4051 412 419 4351 4360 47 4758 4978 5091 51 5105 5106 51477 51478 51548 5167 51703 5236 5290 5291 5293 5294 5315 5335 537 5373 54575 54576 54577 54578 5465 54657 5476 54898 5507 55586 5563 55902 55907 56848 56994 570 57016 57104 5716 5728 5742 5743 57678 5973 60481 6319 6342 6401 6402 64132 6480 6484 64850 648791 6514 6517 65985 6609 6614 6652 6713 6718 6783 7108 7351 7355 7357 7363 7412 7903 79071 79143 79154 7941 79660 79661 79947 80201 80339 8398 8435 84649 847 8473 8529 8694 873 8876 912 9200 929 9370 9415 9420 9563 960	Homo sapiens (human)
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ARSA B3GAT1 CAT CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TMEM165 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 6646 8434 847 952 960	Homo sapiens (human)
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	ARSA B3GAT1 CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TP53 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 5621 5728 5743 6646 7157 8434 952 960	Homo sapiens (human)
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	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)
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)
DOID:811	lipodystrophy	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGL AGPAT1 AGPAT2 AGPS ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 8540 952 9663	Homo sapiens (human)
DOID:0111137	congenital generalized lipodystrophy type 3 Aliases: Berardinelli-Seip congenital lipodystrophy type 3	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:614	lymphopenia Aliases: Lymphocytopenia	ACE ADH1B AGPS ALDH2 B3GAT1 EXTL3 G6PC3 LGALS8 PARP2 PGM3 PKD1 PLA2G10 PNP SGPL1 SIRT6 SLC17A5 SPHK1 SPHK2 TNF	10038 125 1636 2137 217 26503 27087 3964 4860 51548 5238 5310 56848 7124 8399 8540 8877 8879 92579	Homo sapiens (human)
DOID:1791	peritoneal carcinoma Aliases: primary peritoneal carcinoma	DPEP1 PARP1 PARP2 PTEN TYMP	10038 142 1800 1890 5728	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100380028	Xenopus tropicalis (tropical clawed frog)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	stt3b.L stt3b.S	100380973 108718938	Xenopus laevis (African clawed frog)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	neil3.L plod3.L plod3.S	100380996 380138 495489	Xenopus laevis (African clawed frog)
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	aldob ins ogt.1 parp1 ppp1r3cb ugt1a7 ugt1ab	100384891 30262 321664 337685 393807 406731 560788	Danio rerio (zebrafish)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ins ugt1a7 ugt1ab xylt1	100384891 30262 406731 560951	Danio rerio (zebrafish)
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ins ugt1a7 ugt1ab	100384891 30262 406731	Danio rerio (zebrafish)

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