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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 **4026 - 4050** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	ACADSB ACE ACSF3 AGA ALDH3A2 ALDH6A1 ALG11 ALG13 ALG1 ALG3 ALG9 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT B4GAT1 CAT CH25H CHKA CHKB CNTN2 COG4 COG5 COG6 COG7 COG8 COMT CPT2 CRPPA CYB5R3 DAG1 DGCR2 DHCR24 DHCR7 DHDDS DLAT DLD DPAGT1 DPM1 ETNK1 ETNK2 EXT1 EXT2 FAR1 FH FIG4 FKRP FKTN FUT8 G6PC3 GAD1 GAS1 GBA1 GLYCTK GMPPA GMPPB GNPAT HMGCL HSPG2 ICAM1 INPP5K KDSR L1CAM LARGE1 LDHD LFNG LMAN2L LSS LTC4S MAN1B1 MASP1 MBOAT7 MGAT2 MPDU1 MSMO1 MYORG NANS NDST1 NGLY1 NSDHL NTNG1 OGT PAFAH1B1 PARP11 PDHA1 PDHX PGAP1 PGD PIGC PIGH PIGP PIGQ PIGS PIGY PIK3CB PISD PMM2 POFUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RFT1 RXYLT1 SC5D SDHB SDHD SELENOI SGPL1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SMC3 SMPD3 SMPD4 ST3GAL3 ST3GAL5 STT3A STT3B SUCLA2 SUMF1 SYNJ1 TECR TUSC3 XYLT1	10195 10329 10466 10559 10585 11041 1119 1120 11253 1312 132158 1376 145173 148789 1605 1636 1717 1718 1727 1737 1738 175 1798 197257 197322 201595 2131 2132 2218 224 2271 22854 23443 23509 23545 23761 2530 2531 2571 25839 2619 2629 285362 29925 29926 29954 3155 3339 3340 3383 36 3703 3897 3955 4047 4056 4247 4329 440138 5048 50814 51227 5160 51763 5226 523 5279 5283 5291 5373 54187 55224 55343 55500 55512 55624 55627 55768 56052 5648 57097 5728 57462 57511 6307 6309 6390 6392 64131 6487 6900 729920 7355 79143 79147 79796 79868 7991 79947 80055 8050 81562 84188 84197 84342 8443 847 8473 84892 84992 85465 8803 8813 8867 8869 8879 9023 9091 9126 91869 91949 9215 92579 94005 9524 9526 9896 9993	Homo sapiens (human)
DOID:2640	struma ovarii	SMUG1	23583	Homo sapiens (human)
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	CAT CYP21A2 ENO1 GTDC1 LGALS1 LYZ SLC37A4 VCAM1	1589 2023 2542 3956 4069 7412 79712 847	Homo sapiens (human)
DOID:12841	ancylostomiasis	CHIT1	1118	Homo sapiens (human)
DOID:4908	anal carcinoma Aliases: Ca anus carcinoma of anus	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0110757	type 1 diabetes mellitus 20 Aliases: IDDM20 Insulin-Dependent Diabetes Mellitus 20	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABO ACACA ACACB ACAT1 ACE ACHE ACLY ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH6 AGK AGPS AGXT AKR1A1 AKR1B10 AKR1B1 AKR1C3 AKT2 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 ATRN B3GAT1 B4GALNT1 B4GALT5 BAAT BAD BCAN BDH1 BDH2 BRAF BST2 CACNA2D3 CALR CANX CAT CBR1 CD109 CD22 CD248 CD33 CD38 CD44 CD48 CD55 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS1 CERS2 CH25H CHI3L1 CHKA CHPF CHPT1 CHST15 CHSY1 CHSY3 CLC CLEC18B CLEC5A CMAS CNTFR CNTN1 CNTN2 CNTN3 COL9A2 CPT1A CPT1C CS CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 CYP46A1 CYP4F3 DAG1 DBT DCN DCTD DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD DPEP1 EBP ECHS1 EFNA1 EFNA2 ELOVL2 ENO1 ENO2 ENOSF1 ENPP1 ENPP2 EXT1 FADS2 FASN FBP1 FBXO17 FCN2 FDFT1 FDPS FIG4 FKTN FMOD FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT14 GALNT2 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLDC GLO1 GLUL GML GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 GPX3 HACD1 HAS2 HEXA HEXB HJV HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IMPA1 INPP5K INPPL1 ISYNA1 ITPKA KHK KL KLRK1 L1CAM L2HGDH LAYN LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL LSS LYZ MAG MAN2A1 MBD4 MBL2 MCAT ME1 ME2 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NEU3 NEU4 NT5E OCRL OLR1 OPCML OXCT1 PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G4C PLA2G5 PLAUR PLB1 PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PLPP1 PLPP3 PNLIP PNP PNPLA2 POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELP SEMA7A SGMS1 SGMS2 SGPL1 SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC35F1 SLC37A4 SLC3A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SUCLG1 SULF1 SULF2 SULT1E1 SYNJ1 TDG THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNF TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 UGT8 UNG VCAM1 VCAN VNN2 VTCN1 XYLT1	10039 100507436 1012 10135 10159 10232 10327 1040 10457 1048 10558 10559 10682 10715 10825 10855 10858 1087 1116 11181 1119 11332 115290 117145 1178 124 125 126 126129 127 1271 1272 1298 129807 130 135228 1374 142 1431 143903 1462 1464 148738 151056 1543 1545 1555 1559 1571 1573 1586 1588 1593 1594 1604 1605 1606 1629 1634 1635 1636 166929 1718 1738 1800 189 1890 1892 1942 1943 2023 2026 208 2131 218 2180 2181 2182 2194 220 2203 2218 2220 2222 2224 222553 2262 22856 22914 22918 22933 231 23205 23213 23236 2331 23443 23475 23545 23583 23600 23601 240 248 250 2526 2538 2539 2542 2571 2583 2590 259230 2597 2619 2673 27036 27087 27180 2720 27306 2731 27349 2739 2752 2765 28 2817 2819 2820 2821 2876 2878 2923 29956 3037 3073 3074 308 3098 3099 31 310 3161 32 3339 3340 3373 337876 3383 338328 3417 3418 3425 353 3554 3612 3636 3706 378 3795 38 3897 3939 3956 3958 3960 3964 3965 4023 4047 4051 4069 4099 410 412 4124 4153 417 4199 4200 4241 4245 4249 427 43 4350 4351 4360 4507 4594 4595 4684 47 4758 4860 4907 4952 497190 4973 4978 501 5019 5048 5067 50999 5130 51363 51477 51548 5167 5168 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5320 5321 5322 5329 5335 5337 5338 5406 54187 54898 5538 5552 55556 55624 5563 55750 55799 55902 55907 55959 5621 5631 5652 5660 56848 56898 56994 570 57016 57103 57104 57124 5716 572 5728 5730 5742 5743 622 6319 6382 63827 6383 6385 6389 6390 6391 6392 6403 64083 64131 6472 6480 6489 65078 6515 6518 6519 6609 6646 6715 673 6783 684 6900 6996 7086 7108 7124 7157 7167 730249 7357 7358 7360 7368 7374 7412 7903 79586 79623 79679 7991 79944 79947 80270 811 8128 81849 821 8277 8372 8399 8434 8455 847 84725 8482 8505 8525 85365 8540 8560 8605 8611 8613 8644 8658 8692 873 8794 8802 8809 8867 8875 8877 8879 8897 8930 8985 9023 9162 9200 933 9334 9365 9415 945 9514 952 9536 960 962 972 98 9896	Homo sapiens (human)
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)
DOID:12466	secondary hyperparathyroidism	ALPL CYP24A1 CYP27B1 CYP2B6 CYP2R1 CYP3A4 KL PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 UMOD	120227 1555 1576 1591 1594 249 5290 5291 5293 5294 5743 7369 9365	Homo sapiens (human)
DOID:13487	childhood disintegrative disease Aliases: Disintegrative psychosis Heller's syndrome Symbiotic psychosis	ACHE CALR COMT HPGDS	1312 27306 43 811	Homo sapiens (human)
DOID:0110045	Alzheimer's disease 12 Aliases: AD12 Alzheimer disease 12 Alzheimer disease familial 12	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BCKDHB BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 594 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:11111	hydronephrosis	ACE B3GLCT B4GAT1 CHST14 COG1 COG7 CPT2 CYP1A1 EBP G6PC3 GPC3 HPSE2 IDH2 MASP1 NAGLU NSDHL OGA PGAP2 PGAP3 PIGL PIGN PIGO PIGQ PIGV PIGW PIGY PLD1 PTGES PTGS2 TBXAS1 VNN1	10682 10724 11041 113189 1376 145173 1543 1636 23556 2719 27315 284098 3418 4669 50814 5337 55650 5648 5743 60495 6916 84720 84992 8876 9091 91949 92579 93210 9382 9487 9536	Homo sapiens (human)
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	DOLK	22845	Homo sapiens (human)
DOID:3451	skin carcinoma Aliases: carcinoma of skin	CYP1A1 CYP27A1 CYP27B1 HPGDS HSD11B2 INPP5K MICA MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 1543 1593 1594 27306 3291 4360 51763 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	Homo sapiens (human)
DOID:3307	teratoma	ACAT1 ALPP DHCR24 ENO2 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PGM3 PSMD10 PTEN SMUG1 TYMP	1718 1890 2026 2331 23583 250 2523 2674 38 4199 4360 5236 5238 5716 5728	Homo sapiens (human)
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ACE ACSL1 AGK AKR1B10 APRT CACNA2D2 CALR CANX CAT CD44 CEACAM5 CYP1A1 CYP2B6 CYP2E1 EXT1 HACD1 HPGDS HPSE HS3ST2 KLRD1 KLRK1 LGALS3 LGALS9 LIPA LPIN1 MASP2 MBL2 MICA MMUT MPG MUTYH OGG1 PARP1 PDIA3 PIK3CA PLAUR PTEN PTGS2 SDHD SMUG1 ST6GALNAC5 ST8SIA4 STS SULF1 VTCN1	100507436 1048 10747 10855 142 1543 1555 1571 1636 2131 2180 22914 23175 23213 23583 27306 2923 353 3824 3958 3965 3988 412 4153 4350 4594 4595 4968 5290 5329 55750 57016 5728 5743 6392 7903 79679 811 81849 821 847 9200 9254 960 9956	Homo sapiens (human)
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	COMT GNE PIK3C2A	10020 1312 5286	Homo sapiens (human)
DOID:0110785	hereditary spastic paraplegia 34 Aliases: SPG34 X-linked spastic paraplegia 34 X-linked spastic paraplegia type 34	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:8543	Hodgkin's lymphoma, lymphocytic-histiocytic predominance Aliases: Hodgkin lymphoma, lymphocyte-rich Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance Lymphocyte Rich Hodgkin's disease	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)

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