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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 **6526 - 6550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:8503	impetigo herpetiformis	IL1RL2 LDHA	3939 8808	Homo sapiens (human)
DOID:4386	myofibroma Aliases: Lipoleiomyoma	ACE CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HK3 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B POGLUT3 PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 143888 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 2331 23583 2720 27306 3101 3292 3294 3958 4051 4968 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:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	CALR CD55 CYP2C9 GPLD1 PIGM	1559 1604 2822 811 93183	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ABO ACACA ACADM ACADSB ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADH1C ADH5 ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARSA ARSD ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CLEC10A CLEC4G CLGN CNTN1 CNTN3 CNTN4 COMT CPM CPT1A CPT1C CPT2 CRYL1 CSPG4 CYB5R3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2U1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 CYP7B1 DAG1 DBT DCN DERA DGKA DHCR24 DHDDS DHRS11 DLAT DLD DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FIG4 FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT8 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPC1 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB H6PD HACD1 HADHB HAS1 HAS2 HJV HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST3A1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HYAL1 HYAL2 ICAM1 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 INPP4B INPP5D INPP5J INPP5K INPPL1 ISYNA1 KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN2C1 MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT5 MGLL MICA MMP17 MMP25 MPG MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NT5E NTHL1 OGA OGG1 OGT OLR1 OPCML PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB3 PFKFB4 PFKM PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G2A PLA2G4A PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP5 PNP PNPLA2 POFUT1 PPP1R3B PPT1 PRG2 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGM RECK RENBP RGN RPN2 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC2 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TALDO1 TBXAS1 TDG TIGAR TKT TKTL1 TM7SF2 TMED3 TMEM199 TMTC3 TNFRSF10C TNKS2 TNKS TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT2B15 UGT2B17 UGT2B7 UGT8 UMOD UMPS VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10462 1047 1048 1056 10610 10682 10724 10728 10855 1087 10873 11041 1109 1113 11141 11145 1116 1118 1119 11226 11332 11343 113612 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1629 1634 1636 1645 1646 166929 1718 1727 1737 1738 1800 1890 1892 1942 1943 1946 2023 2026 2131 2132 2137 217 218 2180 2182 219 2194 220 220074 2203 2215 226 22856 22914 22925 22933 231 23175 23205 23213 23236 2331 23396 23409 23423 2350 23509 23545 23583 23600 23659 239 240 247 248 249 250 2517 2523 2524 2525 2526 2530 253782 2539 2572 25796 2583 2588 2597 26033 26035 2619 2651 2653 266722 2673 2674 2683 27036 27087 27124 2719 2720 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 2876 2877 2878 2882 28992 2923 2990 29940 29956 3032 3036 3037 307 308 3098 3099 31 310 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3340 3373 3383 339390 34 340075 3417 3418 3423 3425 347734 3482 353 3554 36 3612 3635 3636 3897 3906 3939 3945 3948 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4123 414 4153 4245 4249 427 43 4326 4350 4360 4507 4534 4595 4680 4684 47 4758 4860 4907 4913 4968 4973 4978 50 501 50515 50614 5067 5091 51071 51084 51144 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5209 5210 5213 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 54187 54575 54576 54578 54657 54658 54659 54742 54936 54965 5538 55512 5552 5553 5563 55750 55799 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56913 56965 56994 570 57016 57103 57104 57126 5716 57214 5728 5730 5740 5742 5743 57452 57818 5837 5973 6185 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7086 7108 7167 7355 7357 7358 7364 7366 7367 7368 7369 7372 7412 7903 79154 7923 79603 79623 79660 79679 79888 7991 79947 80201 80351 8050 81031 811 8128 81544 821 8277 8309 83539 83666 8396 8399 84002 8434 84513 847 84725 8473 84812 8482 8505 85365 8611 8630 8644 8658 8692 873 8733 874 8794 8809 8821 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9388 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 9896 9955	Homo sapiens (human)
DOID:1037	lymphoid leukemia Aliases: lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP FCER2 FDPS GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 5506 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT COQ2 CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 L1CAM LEP LEPR LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2645 26503 2678 27235 279 28 283871 3099 3290 3291 3383 353 3554 3636 3897 3952 3953 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)
DOID:576	proteinuria	ACE ACSL4 CD38 CD55 CTNS CYP11B1 DCN DGKE DLST EHHADH FH FUT1 G6PC1 GALT GBA1 GLA GPC5 GUSB HPSE2 HPSE ICAM1 LCAT LEPR LPIN2 LYZ MDH2 MGAT5 NEU1 OCRL PLA2G7 PLCE1 PMM2 PTGS2 SDC1 SDHA SDHB SDHC SDHD SGPL1 SLC35A1 SLC37A4	10559 10855 1497 1584 1604 1634 1636 1743 1962 2182 2262 2271 2523 2538 2542 2592 2629 2717 2990 3383 3931 3953 4069 4191 4249 4758 4952 51196 5373 5743 60495 6382 6389 6390 6391 6392 7941 8526 8879 952 9663	Homo sapiens (human)
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)
DOID:7849	dendritic cell sarcoma	SLC35B2	347734	Homo sapiens (human)
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	ACAT1 ACO2 ACOX1 ACSL4 ALDH5A1 ALG13 ALG14 ARSD B3GALNT2 COG5 CYB5R3 DAG1 DBT DGKK DPAGT1 ECHS1 FKRP FKTN FUCA1 GCK GMPPB HMGCL IL1RAPL1 IMPA1 L1CAM L2HGDH LARGE1 LMAN2L MAN1B1 MBOAT7 MGAT2 MRC1 NAGA NAGLU NANS NDST1 PDHA1 PGAP1 PGAP2 PGAP3 PIGC PIGL PIGO PIGV PIGW PIGY POMGNT1 POMT1 POMT2 PPT1 RFT1 SDHA SLC35A2 SLC35A3 SMC3 SRD5A3 ST3GAL3 ST3GAL5 SUCLG1 TECR TUSC3	10466 10585 11141 11253 139189 148789 1605 1629 1727 1798 1892 199857 2182 2218 23443 2517 2645 27315 284098 29925 29954 3155 3340 3612 38 3897 414 4247 4360 4668 4669 50 51 5160 5279 54187 5538 55624 55650 6389 6487 7355 79143 79147 7915 79644 79868 7991 79944 80055 81562 84720 84992 8802 8869 9126 91869 9215 93210 9487 9524	Homo sapiens (human)
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)
DOID:14555	Foster-Kennedy syndrome	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	ACACA ACAT1 ACE ACLY ACSBG1 ACSL1 ACSL4 ACSS2 ADH1B ADH1C AGL AKR1B10 AKR1B1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ART1 ASAH1 ATRNL1 B3GALT5 B3GNT6 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BPHL BRAF C1GALT1 CA4 CALR CAT CBR1 CD248 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 COMT CSGALNACT1 CTBS CYB5R1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP EFNA1 ENO1 ENPP3 ENPP7 FADS1 FASN FBP1 FH FMOD FOLR1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT7 G6PD GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GLTP GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LPIN1 LYNX1 LYPD5 MACROD2 MBD4 MBL2 ME1 MGLL MICA MMP25 MMUT MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NEU3 NTNG1 OGA OGG1 OLR1 PARG PARP1 PCYT1A PCYT1B PFKFB3 PGK1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD2 PLD4 PLEKHA8 PNP PNPLA2 POGLUT1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPIA RPN2 SCD SDC1 SDC2 SDC4 SELE SELL SELP SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC1 STT3A SULT1E1 SYNJ2 TDG TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UNG VCAM1 VCAN VNN1	100507436 1012 10135 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 126 1312 140733 142 1462 146712 1486 151056 1543 1544 1571 1576 1581 1588 1591 1594 1605 1607 1634 1636 166929 1717 1718 1738 178 1800 1836 1890 192134 1942 2023 217 218 2180 2182 219 2194 220 2203 2271 22854 22914 22933 22934 231 23175 23205 2331 23423 2348 23583 23600 23659 240 246 250 2523 2524 2525 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3965 3990 3992 4051 410 4153 417 4199 427 4360 4507 4534 4594 4595 4680 47 4860 4968 4973 501 50487 51228 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5563 55790 55808 55902 56848 56913 56983 56994 570 57016 57104 57124 5716 57214 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6385 6401 6402 6403 64083 64386 6470 6472 6480 6484 6514 6515 6517 6518 6519 66004 6609 6646 670 673 6783 6996 7086 7108 7355 7367 7374 7412 762 7941 7991 79947 80328 811 8277 8394 8399 84076 8434 847 84725 8505 8525 8526 85329 8658 8692 8693 873 8821 8871 8876 8877 8879 8897 8930 9104 9126 9245 93010 9365 9420 9468 9536 960	Homo sapiens (human)
DOID:4594	microcystic meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:3042	allergic contact dermatitis	ACE CD1D CNTN3 CYP1A1 ELOVL6 FCGR3B HSD11B1 MRC1 NAMPT SDC1 SELE SLC2A3 ST6GAL1 TLR4 UPP1	10135 1543 1636 2215 3290 4360 5067 6382 6401 6480 6515 7099 7378 79071 912	Homo sapiens (human)
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)
DOID:13739	nutmeg liver Aliases: chronic passive congestion of liver	ABO ACACB ACADS ACAT1 ACAT2 ACE ACHE ACSS2 ADH1C AKR1A1 AKR1B1 ALDH2 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ASGR1 CAT CD14 CD44 CDH13 CEL CHI3L1 CHIT1 CLEC1B CLEC7A COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DHCR7 EBP EFNA5 ENPP1 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FDPS FUT3 GALNT2 GALNT3 GCK GGT1 GLO1 GLUL GPD1L GPIHBP1 GPLD1 GPX1 GPX3 HPGDS HPSE2 HPSE HSD11B1 HSPG2 ICAM1 IL1RL1 ISYNA1 ITLN1 KL LCAT LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL MBL2 MCFD2 MGAM MPI MTAP NAMPT NCAM1 NDST4 NDUFAB1 NT5E OGG1 OLR1 OXCT1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G5 PLA2G6 PLA2G7 PLB1 PLPP3 PRKAA2 PTEN PTGDS PTGS1 PTGS2 RENBP RPN1 SCD SELE SELL SELP SFTPD SI SIGLEC1 SIRT4 SIRT6 SLC33A1 SLC35G1 SLC5A1 SMPD1 SMUG1 SOAT1 SOAT2 SRGN ST6GALNAC5 ST8SIA4 TM7SF2 UGT1A1 UGT1A6 UMOD VCAM1	1012 10135 10162 10327 1056 10682 10855 1116 1118 120227 126 1312 151056 1543 1555 1557 1558 1559 1571 1573 1577 1579 1581 1585 1586 1588 1593 159371 1636 1717 1946 2053 2137 217 2215 2224 231 23171 23409 23583 23659 240 247 249 2525 2590 2591 2645 2678 27306 2739 2752 28 2822 2876 2878 308 32 3290 3339 3383 338328 35 353 38 39 3931 3957 3958 3988 3990 3992 3998 4023 410 4153 43 432 4351 4507 4684 4706 4907 4968 4973 5019 51266 5130 51477 51548 5167 5286 5290 5291 5293 5294 5310 5319 5320 5322 54578 54658 5552 55600 5563 55902 5728 5730 5742 5743 5973 60495 6184 6319 6401 6402 6403 6441 64579 64581 6476 6523 6609 6614 6646 7108 7369 7412 7903 7941 81849 8398 8399 8435 847 8529 8613 8972 90411 9173 9197 929 9365 9388 9415 960	Homo sapiens (human)
DOID:5386	lung adenoma Aliases: adenoma of lung pulmonary adenoma	CD44 CYP2B6 UPP1	1555 7378 960	Homo sapiens (human)
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)
DOID:0080127	mitochondrial DNA depletion syndrome 8a Aliases: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	TYMP	1890	Homo sapiens (human)
DOID:0090055	dystonia 25	ALDH5A1	7915	Homo sapiens (human)

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