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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 **4176 - 4200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:11504	autonomic neuropathy	ABO ACE ACHE ALDH3A2 ARSA B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8893	psoriasis	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FABP5 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GBA1 GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NAMPT NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RBP4 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 TLR2 TLR4 TNF UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10135 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2171 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 2629 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5950 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7097 7099 7124 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3663	cutaneous mastocytosis Aliases: CM	CD44 DHCR24 DLD ENOSF1 GPX1 ICAM1	1718 1738 2876 3383 55556 960	Homo sapiens (human)	DisGeNET
DOID:11262	ornithosis Aliases: psittacosis	IL18R1	8809	Homo sapiens (human)	DisGeNET
DOID:0060833	Griscelli syndrome type 2 Aliases: GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome	GLUL IDS	2752 3423	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7A1 CYP7B1	1581 9420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4080	tricuspid valve insufficiency Aliases: Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation	CHST3 HADHA HADHB PLD1 PTGS2 SDHD	3030 3032 5337 5743 6392 9469	Homo sapiens (human)	DisGeNET
DOID:14524	senile degeneration of brain Aliases: Senile brain degen.	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)	DisGeNET
DOID:3612	retinitis	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CHAT CHI3L1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PLA2G7 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5338 55624 56848 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)	DisGeNET
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	PIGL	9487	Homo sapiens (human)	DisGeNET
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	PI4KA	5297	Homo sapiens (human)	DisGeNET
DOID:5199	ureteral obstruction	ACE AKT1 ATP6AP2 CALR CAT CBR1 CD44 CYP2J2 GPNMB GRHPR HPGDS HSD11B2 ICAM1 IL1RL1 ISYNA1 KL LGALS3 LYZ PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 PTGDS PTGES PTGS2 SDC4 SOAT1 SPHK1 SPHK2 TNF VCAM1 VNN1	10159 10457 142 1573 1636 207 27306 3291 3383 3958 4069 51477 5290 5291 5293 5294 5321 5563 56848 5730 5743 6385 6646 7124 7412 811 847 873 8876 8877 9173 9365 9380 9536 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14555	Foster-Kennedy syndrome	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)	DisGeNET
DOID:10605	short bowel syndrome Aliases: acquired short bowel syndrome short gut syndrome	LEP LEPR	3952 3953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070125	congenital nongoitrous hypothyroidism 5 Aliases: CHNG5	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET
DOID:14188	frozen shoulder Aliases: Adhesive capsulitis of shoulder adhesions-capsulitis,shoulder	AKR1B1 HPRT1 PARP1 PRNP PTGS1 PTGS2	142 231 3251 5621 5742 5743	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	CHKB EHHADH GAA GBE1 HADHA OTOA PLCE1 PTGS1 PTGS2 SIRT4	1120 146183 1962 23409 2548 2632 3030 51196 5742 5743	Homo sapiens (human)	DisGeNET
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	ABO ACE BDH1 IL1R1 LGALS3 SELE TNF	1636 28 3554 3958 622 6401 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ACAN AGA APRT ARSA ARSB ARSG ARSH ARSK CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 153642 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12273	anisometropia	PTEN SLC35A2	5728 7355	Homo sapiens (human)	DisGeNET

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