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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 **7051 - 7075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	ACAT1 ACE ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPGDS HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PLCG2 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10724 10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27306 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 4669 51196 5290 5291 5293 5294 5310 5336 5373 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	ACAT1 ACE ALG1 ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 51196 5290 5291 5293 5294 5310 5373 56052 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1184	nephrotic syndrome	ACAT1 ACE ALG1 ALOX5 CALR CHST14 CNTN1 COQ2 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 GPX1 GPX3 HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PMM2 PPARGC1A PTGS2 SDC1 SDC2 SGPL1 SLC17A5 SOAT2 STS TREH VCAM1	10855 10891 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27235 2739 2876 2878 3291 3339 3554 38 3931 3956 3990 4048 4069 412 51196 5290 5291 5293 5294 5310 5373 56052 5743 57678 6382 6383 7412 7941 811 8435 8526 8694 8879 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12252	obsolete Cushing's syndrome	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)	DisGeNET DisGeNET
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	ACAT1 ACE AKR1B1 APRT ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP3A4 CYP4F3 FASN FH G6PD HSD11B1 HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1 SMUG1	10159 1576 1583 1584 1585 1586 1588 1589 1636 1836 2194 2271 231 23583 2539 3283 3284 3290 3291 353 38 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ACAT1 ACE ADIPOQ CAT CHGA CPT1A CYP1A1 CYP2C8 CYP3A5 ENPP1 GHRL GLO1 ICAM1 KL LCAT LEP LIPC LPIN1 LPL MBL2 OLR1 PLA2G7 PLAUR SELL SOAT2 TLR2 TLR4 TNF UCP2	1113 1374 1543 1558 1577 1636 23175 2739 3383 38 3931 3952 3990 4023 4153 4973 5167 51738 5329 6402 7097 7099 7124 7351 7941 8435 847 9365 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060190	ileocolitis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060189	ileitis Aliases: Crohn's ileitis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TLR2 TLR4 TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7097 7099 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 COG6 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GP2 GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LALBA LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 MUTYH NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1087 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2813 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3906 3938 3956 3957 3958 4069 410 412 4153 427 4360 4595 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 57511 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060180	colitis	ACAT1 ACE ACSBG1 ADIPOQ ADRB3 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PPARGC1A PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TFF1 TLR4 TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 10891 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 155 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3938 3956 3957 3958 4069 410 412 4153 427 4360 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7031 7099 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9370 9420 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RTN4R SCD SDC1 SDC2 SDHB SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6390 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5076	mixed glioma Aliases: mixed Neuroglial tumor mixed gliomas	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3071	gliosarcoma Aliases: Glioblastoma with sarcomatous component	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2007	degeneration of macula and posterior pole Aliases: degeneration of macula and posterior pole of retina degeneration of macula or posterior pole	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)	DisGeNET
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT BAD CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 TLR4 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 572 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7099 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:374	nutrition disease Aliases: Nutritional disorder	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13579	kwashiorkor Aliases: Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:11801	protein-energy malnutrition	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP19A1 CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA LIPC OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1588 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3990 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12328	marasmus Aliases: Nutritional atrophy Nutritional marasmus	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP19A1 CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA LIPC MPI OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PMM2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1588 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3990 3992 4351 47 5091 5106 5290 5291 5293 5294 5338 5373 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)	DisGeNET
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)	DisGeNET
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	ACAN SLC25A12	176 8604	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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