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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 **1401 - 1425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ACADM ACOT7 ACSS2 AGXT ALDH1A3 ALOX15 ALOX5 ALPP ANXA5 APRT ATRNL1 CAT CD14 CD44 CEACAM5 CEACAM7 CHI3L1 CHST14 CNTN3 CYP19A1 CYP1A2 CYP2B6 EFNA1 ENO1 FBP1 FCGR3B FIG4 FUT1 GGT1 GPC3 GPNMB HK2 ICAM1 IDH1 IDH2 KLRK1 LDHA LGALS1 LGALS3 MCAT MICA MRC1 MSLN MUTYH NEIL1 OGG1 OPCML PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G15 PLA2G4A PLA2G7 PSMD10 PTEN PTGES PTGS2 RECK SCP2 SIRT2 SMUG1 SPHK1 STS TNFRSF10C UNG	100507436 10232 10457 1048 1087 1116 113189 11332 142 1544 1555 1588 189 1942 2023 220 2203 2215 22914 22933 23583 23659 240 246 250 2523 26033 2678 2719 27349 308 3099 3383 34 3417 3418 353 3939 3956 3958 412 4360 4595 4968 4978 5048 5067 5290 5291 5293 5294 5311 5315 5321 55902 5716 5728 5743 6342 7374 7941 79661 8434 847 8794 8877 929 9536 960 9896	Homo sapiens (human)
DOID:92	speech disorder	ACOX1 AGA ALDH7A1 ASAH1 B3GALNT2 CALR CNTN4 CPT1A CYP27A1 DDOST FH FKRP FKTN GBA1 GCDH GMPPB GPC3 HK1 LARGE1 MANBA NEU1 PAFAH1B1 PNPLA6 POMGNT1 POMT1 POMT2 PTEN SMC3 STS TBXAS1	10585 10908 1374 148789 152330 1593 1650 175 2218 2271 2629 2639 2719 29925 29954 3098 412 4126 427 4758 501 5048 51 55624 5728 6916 79147 811 9126 9215	Homo sapiens (human)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	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: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:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ABO ACACA ACADM ACADSB ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADH5 ADIPOQ ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARF4 ARSA ARSD ARSF ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BAD BDH1 BDH2 BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHI3L2 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CHSY3 CLEC10A CLEC14A CLEC3A CLEC4G CLGN CNTN1 CNTN3 CNTN4 CNTN6 COG3 COLGALT2 COMT CPM CPT1A CPT1C CPT2 CRLS1 CRYL1 CSGALNACT1 CSPG4 CYB5R3 CYB5R4 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 DCTD DERA DGKA DGKE DGKG DHCR24 DHDDS DHRS11 DLAT DLD DPAGT1 DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FH FIG4 FKTN FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 G6PC1 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT4 GALNT5 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLA GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPAT3 GPC1 GPC2 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX6 GPX7 GUSB H6PD HACD1 HADHA HADHB HAS1 HAS2 HJV HK1 HK2 HK3 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST2 HS3ST3A1 HS3ST3B1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDS IDUA IGF2 IGF2R IL18R1 IL1R1 IL1RAPL1 IL1RAPL2 IMPA1 INPP4B INPP5D INPP5F INPP5J INPP5K INPPL1 ISYNA1 KAT2B KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LEP LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN1A1 MAN2C1 MANEA MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT3 MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MRC1 MSLN MTAP MTM1 MTMR3 MTMR8 MUTYH NAMPT NANS NCAM1 NDST1 NEIL2 NEU1 NT5E NTHL1 NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OXSM PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PI4K2A PIGS PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP4 PLPP5 PNLIPRP1 PNP PNPLA2 POFUT1 PPAT PPP1R3A PPP1R3B PPP1R3C PPT1 PRG2 PRKAA1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB PYGM QTRT1 RECK RENBP RGMA RGMB RGN RPN2 SACM1L SCD5 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SFTPD SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35A4 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GAL2 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 SYNJ2 TALDO1 TBXAS1 TDG TECTA TEX101 THEM4 TIGAR TKT TKTL1 TLR2 TLR4 TM7SF2 TMED1 TMED3 TMED5 TMEM199 TMTC3 TMTC4 TNF TNFRSF10C TNKS2 TNKS TP53 TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B4 UGT2B7 UGT8 UMOD UMPS UPP1 VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10143 10159 10195 10232 10327 1040 10400 10457 10462 1047 1048 10558 1056 10610 10682 10724 10728 10855 1087 10873 11018 11041 1109 1113 11141 11145 1116 11164 1117 1118 1119 11226 11227 11332 11343 113612 113829 117145 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 154091 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1608 161198 1629 1634 1635 1636 1645 1646 166929 1718 1727 1737 1738 1798 1800 1836 1890 1892 1942 1943 1946 196051 200576 2023 2026 207 2131 2132 2137 217 218 2180 2181 2182 219 2194 220 220074 2203 2215 2218 221914 226 2271 22856 22876 22908 22914 22925 22933 231 23127 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 2528 252969 2530 253782 2538 2539 2572 257202 25796 2583 2588 2597 26033 26035 2619 26279 26280 2651 2653 266722 2673 2674 2683 27036 27087 27124 2717 2719 2720 27255 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 285704 2876 2877 2878 2882 28992 2923 2990 29940 29956 3030 3032 3036 3037 307 308 3098 3099 31 310 3101 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3339 3340 3373 337876 3383 339390 34 340075 3417 3418 3423 3425 347734 3481 3482 353 3554 36 3612 3635 3636 378 3897 39 3906 3939 3945 3948 3952 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4121 4123 414 4153 416 4245 4248 4249 427 43 4326 4350 4360 4507 4534 4594 4595 4680 4684 47 4758 4860 4907 4913 4967 4968 4973 4978 50 501 50515 50614 5067 5091 50999 51071 51084 51144 51167 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5208 5209 5210 5213 5214 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5407 54187 54575 54576 54578 54600 54657 54658 54659 54675 5471 54742 54936 54965 54995 5506 5507 55361 5538 55512 5552 5553 55613 5562 5563 55750 55753 55790 55799 55808 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56898 56913 56963 56965 56994 570 57016 57103 57104 57126 5716 572 57214 5728 5730 5740 5742 5743 57452 57818 5834 5837 5973 60495 6185 622 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6441 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7007 7086 7087 7097 7099 7108 7124 7157 7167 7355 7357 7358 7363 7364 7366 7367 7368 7369 7372 7378 7412 7903 79154 7923 79603 79623 79660 79679 79694 79837 79888 7991 79947 79966 80201 80351 8050 81031 811 8128 81544 81849 81890 821 8277 8309 83539 83548 83639 83666 8394 8396 8398 8399 84002 8434 84513 84620 847 84725 8473 84803 84812 8482 84899 8505 8526 85365 8605 8611 8630 8644 8658 8692 8693 8705 873 8733 874 8794 8809 8821 8850 8871 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9370 9388 94005 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 98 9896 9953 9955 9956	Homo sapiens (human)
DOID:2744	pyelitis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome	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:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)
DOID:0050873	follicular lymphoma	AKR1C4 ALOX5 ATP6AP1 CD38 CD44 CD55 CHIT1 FBP1 FCER2 FH GAPDH GBA1 GPX1 HPGDS HSD11B2 KDSR LPL MASP2 MBL2 MCAT NAMPT NCAM1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDC1 SLC35B2 SMUG1	10135 10747 1109 1118 1604 2203 2208 2271 23583 240 2531 2597 2629 27306 27349 2876 3291 347734 4023 4153 4684 4968 5290 5291 5293 5294 537 5728 6382 952 960	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSM3 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX12 ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 ENPP2 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SELP SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1591 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 239 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3481 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5168 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6296 6382 6401 6402 6403 64090 64116 6441 64581 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)
DOID:854	collagen disease Aliases: collagen disorder	ACE B3GALT6 B4GALT7 CD22 COL9A2 CYP3A5 DCN GLB1 HPRT1 NT5E PCYT1A PKD1 PKD2 PLOD3 SCP2 SELE SLC2A10 TLR4	11285 126792 1298 1577 1634 1636 2720 3251 4907 5130 5310 5311 6342 6401 7099 81031 8985 933	Homo sapiens (human)
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	CLEC5A NCAM1	23601 4684	Homo sapiens (human)
DOID:0090077	hypogonadotropic hypogonadism 4 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110547	autosomal dominant nonsyndromic deafness 16 Aliases: DFNA16 autosomal dominant deafness 16	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050495	exanthema subitum Aliases: Roseola Infantum Sixth Disease	ABO CANX CDS1 CYB5R3 FCN2 HPGDS IL18R1 MRC1	1040 1727 2220 27306 28 4360 821 8809	Homo sapiens (human)
DOID:9286	priapism Aliases: Mentulagra	G6PD GLA KL PTDSS1	2539 2717 9365 9791	Homo sapiens (human)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	EXT1 GNPTAB INPP5K NAGLU SLC2A10	2131 4669 51763 79158 81031	Homo sapiens (human)
DOID:204	enthesopathy	ACLY ADH1B CALR CD14 CD22 CD44 ENPP1 FMOD FOLR2 HSPG2 KL KLRC1 KLRD1 LGALS8 NT5E PTGS2 SELL VCAM1	125 2331 2350 3339 3821 3824 3964 47 4907 5167 5743 6402 7412 811 929 933 9365 960	Homo sapiens (human)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ACADM ACSBG1 ALG10 ALG10B CNTN3 CYP1A1 KCNQ1 PTEN SCD SLC2A5 SQLE	144245 1543 23205 34 3784 5067 5728 6319 6518 6713 84920	Homo sapiens (human)

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