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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 **626 - 650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:1751	malignant conjunctival melanoma Aliases: Conjunctival melanoma malignant melanoma of conjunctiva	MICA PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:4964	neurotic disorder Aliases: Neurotic depression reactive type Neurotic depressive state Psychoneurosis depressive neurosis neurosis neurotic depression reactive depression	ABAT ABO ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CACNA2D1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DGKG DGKH DHDDS DLD EDEM1 ENO2 EPM2A FADS1 FADS2 FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPC6 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDGA2 MDH2 ME1 MPG MPI MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG VCAM1 XYLT2	10082 1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 116285 125 126 1298 1312 1374 142 1431 1463 1464 148789 151056 1544 1555 1557 1559 1571 1576 1588 1593 159371 1607 1608 160851 161357 1636 1646 166929 1738 18 2026 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 266727 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 28 2821 283871 2876 2923 307 31 32 3290 3340 3383 340075 3423 3425 353 3554 3613 3636 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4351 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5319 5320 5321 5332 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 8398 847 8560 8658 8803 9104 9197 9348 9365 9394 9415 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:11476	osteoporosis	ABO ACE ACHE AGPAT2 AKR1A1 AKR1B1 AKR1C4 AKR1D1 ALDH2 ALDH7A1 ALOX12 ALOX15 ALPL ALPP ARSA ASAH1 ATRNL1 B3GALT6 B3GAT3 CAT CD14 CD38 CD44 CHST3 CLC COMT CPT1A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP3A4 DDOST DGCR2 DPEP1 ENO1 ENPP1 EXT1 FASN FDPS G6PC1 GALNS GALNT3 GALT GAPDH GK GLB1 GLO1 GPAA1 GPC6 GPD2 GPLD1 GPNMB GPX1 HJV HPGDS HPRT1 HPSE HS6ST1 HSD11B1 HSD11B2 HSD17B1 HSD17B2 HSD17B4 HSD3B2 HSD3B7 HSPG2 ICAM1 IDH2 IDUA IGF2 INPP4B IRS2 ITLN1 KL LCT LEP LEPR LGALS8 LRP5 MAPK14 MBL2 MGLL MMP17 NAMPT NDUFAB1 NGLY1 OXCT1 PCCA PCCB PCNA PGLS PIGT PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKM PLCG2 PMM2 PNP PRKAA2 PTEN SGMS2 SIGLEC15 SIRT2 SIRT6 SLC26A2 SLC37A4 SMPD1 SMUG1 SOAT1 ST3GAL4 TM7SF2 TMEM165 TPI1 UGT2B17 UMOD VCAM1 XXYLT1 XYLT2	10082 10135 10327 10457 10555 10855 1109 11343 1178 126792 1312 1374 1432 148738 152002 1543 1545 1555 1576 1583 1584 1586 1588 1591 1593 1594 1636 1650 166929 1800 1836 2023 2131 217 2194 2224 22933 231 23583 239 246 249 250 2538 2542 25796 2588 2591 2592 2597 26033 26229 2710 2720 27306 2739 28 2820 2822 284266 2876 3251 3284 3290 3291 3292 3294 3295 3339 3383 3418 3425 3481 3938 3952 3953 3964 4041 410 4153 427 43 4326 4706 4860 501 5019 5095 5096 5111 51548 51604 5167 5290 5291 5293 5294 5315 5336 5373 55600 5563 55768 55858 5728 64132 6484 6609 6646 6718 7108 7167 7367 7369 7412 80270 8395 847 8660 8733 8821 929 9365 9394 9469 952 960 9993	Homo sapiens (human)
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	CD44 COLGALT1 GPC1 GPC3 GPC5 GPC6 HPRT1 NAMPT PIGA SLC2A4	10082 10135 2262 2719 2817 3251 5277 6517 79709 960	Homo sapiens (human)
DOID:1059	intellectual disability	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CHKB CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K IRS2 KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NDST2 NDST3 NDST4 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 1120 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 64579 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 8509 85365 8660 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9348 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 85365 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:483	cavernous hemangioma Aliases: Cavernoma Cavernous haemangioma	ACE ATP6AP2 ATP6V1A C1GALT1C1 CALR CD14 CTSA CYP1B1 DPM1 GAS1 GNPTAB GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG MTM1 MTMR14 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHC SDHD SRD5A3	10082 10159 10908 1545 1636 2619 29071 3294 3417 3418 3482 4099 4534 523 5281 5290 5291 5293 5294 5310 5476 57104 5728 6391 6392 64419 79158 79644 811 8809 8813 929	Homo sapiens (human)
DOID:11383	cryptorchidism Aliases: Cryptorchism Undescended testicle Undescended testis undescended testicles	AKR1C2 AKR1C4 ALG12 ALG8 ANXA5 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CD44 CHST14 COG1 COG5 COLEC10 COLEC11 COMT CRPPA CYP11A1 CYP11B1 CYP17A1 CYP19A1 DAG1 DHDDS EBP EXT2 FIG4 FKRP FKTN G6PC3 GMPPB GPC3 GPC6 HACD1 HIBCH HPGDS HPSE2 HS6ST1 HSD17B3 HSD3B2 INPPL1 LARGE1 LFNG MASP1 MTM1 MTMR14 OCRL OGT PGK2 PIGN PIK3C2A PIK3CA PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTGDS RXYLT1 SGPL1 SLC26A2 SLC35D1 SMC3 SRD5A2 STS STT3B TGDS	10082 10329 10466 10584 10585 10682 10908 11041 1109 11285 113189 1312 145173 148789 1583 1584 1586 1588 1605 1646 1836 201595 2132 2218 23169 23483 23545 23556 26275 2719 27306 29925 29954 308 3284 3293 3636 3955 412 4534 4952 523 5232 5286 5290 5373 55624 5648 5730 60495 64419 6716 729920 78989 79053 79087 79147 79947 84197 8473 84892 8879 9126 9200 9215 92579 9382 9394 960 9791 9896	Homo sapiens (human)
DOID:0060327	omphalocele Aliases: omphalocoele	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)
DOID:0060321	umbilical hernia	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ACOX1 ACSL3 AGA ALG13 ALG9 ALOX5 ALPL ALPP ANXA7 ARSA ATRNL1 B3GAT3 B3GLCT CHI3L1 CHST14 CHST3 CLC CNTN1 COLEC10 COLEC11 COMT CPO CYP11B1 CYP24A1 CYP2B6 DGCR2 DSE ENPP1 EXT2 FKTN FREM1 FUCA1 GAD2 GNPTAB GPC1 GPC3 GPC6 HPGDS HSD11B1 HSD17B4 IDS IL1RL1 IL1RL2 L1CAM LYZ MASP1 MGAT2 MPDU1 MRC1 NAAA NANS NGLY1 NT5E PDHX PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PNPLA6 PTEN PTGDS PTGS2 SDC1 SFTPA1 SFTPA2 SFTPD SLC2A10 SLC35A2 SLC39A8 SMC3 SRD5A3 SULT1E1 VCAM1	10082 10584 10908 1116 113189 1178 1272 130749 1312 145173 1555 158326 1584 1591 175 2132 2181 2218 240 249 250 2517 2572 26033 26229 27163 2719 27306 27315 2817 284098 29940 310 3290 3295 3423 3897 4069 410 4247 4360 4907 51 51604 5167 5290 5291 5293 5294 5320 54187 55650 55768 5648 5728 5730 5743 6382 64116 6441 653509 6783 729238 7355 7412 78989 79158 79644 79796 79868 8050 81031 8399 84720 84992 8808 9126 9173 93210 9469 9487 9526 9993	Homo sapiens (human)
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)
DOID:255	hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GNPTAB GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG MTM1 MTMR14 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHC SDHD SLC2A1	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 4534 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6391 6392 64419 6513 79158 811 8809 8813 929	Homo sapiens (human)
DOID:277	chorioangioma Aliases: Placental 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:468	intramuscular hemangioma Aliases: Intramuscular Angioma	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: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:2431	glomus tumor Aliases: Glomus neoplasm Glomus tumour	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6392 811 8809 8813 929	Homo sapiens (human)
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:13620	patent foramen ovale Aliases: Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0110107	atrial heart septal defect 2 Aliases: ASD2 atrial septal defect 2	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0110109	atrial heart septal defect 4 Aliases: ASD4 atrial septal defect 4	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0110112	atrial heart septal defect 7 Aliases: ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)

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