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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 **4051 - 4075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	ABAT ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADIPOQ ADRB3 AGPS AGRN AKR1A1 AKR1B1 AKR1C2 AKR1C4 AKR7A2 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ALPI ALPP ANXA5 APOD APRT ARSA ASAH1 ASAH2 ATRNL1 B3GALT4 B3GAT1 BAD BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CFC1 CH25H CHAT CHI3L1 CHIT1 CHPT1 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 CYP51A1 CYP7B1 CYP8B1 DAG1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 EBP EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GCG GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GSK3B GSTO1 GSTO2 GTDC1 GUSB H6PD HADHA HADHB HAS1 HAS3 HK1 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B2 HSPG2 HTR2A HYI ICAM1 IDH1 IDH2 IDUA IGF2 IGF2R IL1R1 IL1RAP IL1RL1 IL6ST IMPA1 INPP5D INPP5K INPPL1 INS IPMK IRS2 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LEP LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MAPK14 MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAGLU NAMPT NANS NCAM1 NDUFAB1 NEIL1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCD1 PLCE1 PLCG1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPARA PPARGC1A PPP1R3A PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SDHB SELE SELL SELP SFTPA1 SFTPC SGMS2 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A1 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SULT1E1 SYNJ1 TGDS TIGAR TKT TLR4 TM7SF2 TMED9 TNF TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10195 10327 10400 10457 10466 1048 10558 10559 10682 10715 10724 10728 10855 10858 1087 10891 1103 1109 1116 1118 11332 11343 1178 119391 1203 1272 130749 1312 131375 132789 1374 142 1431 1432 1462 1464 1497 151056 1544 155 1555 1559 1573 1576 1582 1583 1586 1588 1593 1595 1604 1605 1609 1634 1636 1646 166929 1718 1738 1743 18 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 22933 231 23127 23236 23274 23305 23483 2350 23583 23646 23659 239 240 246 248 250 253430 2539 2571 2572 2588 2597 26033 26232 2629 26330 2641 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2932 2990 3030 3032 3036 3038 308 30835 3098 31 3158 3251 3284 3290 3292 3293 3295 3339 3356 3383 3417 3418 3425 346606 347 3481 3482 353 3554 3556 3572 3612 3630 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3952 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4669 4680 4684 4706 4758 48 4860 4907 4967 4968 4973 50 501 5048 5049 5091 5105 51084 51196 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5310 5315 5319 5320 5321 5329 5333 5335 5336 5337 5338 5373 54187 5465 54658 54732 5506 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56624 56848 56994 57103 57104 57126 572 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 6390 6401 6402 6403 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6513 6515 6517 653509 6609 6610 6646 6652 6713 6783 683 6900 7086 7099 7108 7124 7167 7355 7357 7369 7374 7412 79154 7941 7957 79661 79712 79947 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8574 8630 8660 8705 8733 8801 8803 8867 8877 8879 9023 9104 9173 9197 929 9365 9370 9388 9420 9446 945 9468 952 9536 9563 960 9672 972 9791 9957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	ACHE APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MDH1 MGAM PRNP PYGL PYGM SI SLC37A4	1581 2538 2542 2632 2992 2998 353 4190 43 5621 5836 5837 6476 8972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14705	Pfeiffer syndrome Aliases: acrocephalosyndactylia type V	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:4587	benign meningioma Aliases: meningioma, benign	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4419	benign deep fibrous histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET
DOID:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12359	endocrine exophthalmos	ACHE ALDH2 APRT CD44 CYP1A1 GAPDH HAS2 ICAM1 IL18R1 LYZ NAMPT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 SCD SELE SOAT1 SPAM1 SPHK1 ST3GAL5 ST8SIA1 VCAM1	10135 142 1543 217 2597 3037 3383 353 4069 43 5290 5291 5293 5294 5563 5743 6319 6401 6489 6646 6677 7412 8809 8869 8877 960	Homo sapiens (human)	DisGeNET
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy 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)	DisGeNET
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:0110433	dilated cardiomyopathy 1E Aliases: CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	ABO ACAA1 ACE ACHE ACOT7 ACSL3 ADH1B ADH5 AGXT AKR1B1 ALDH2 ALDH3A1 ALDH3A2 ALDH7A1 ALOX15 ALOX15B ALOX5 ALPL ANXA4 ANXA5 APRT ARSA ATRN ATRNL1 B3GAT1 BST1 CAT CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD93 CDH13 CEACAM5 CEACAM6 CEL CHAT CHI3L1 CHIA CHIT1 CHST8 CLC CLEC10A CLEC16A CLEC4E CLEC7A COG6 COL9A2 COLEC10 COMT CRYBG1 CTSA CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 DAD1 DAG1 DCN DGKB DGKE DGKG DGKH EBP EFNA1 ENO1 ENO2 ENPP1 FADS1 FADS2 FCER2 FCGR3B FUT2 G6PD GALNT17 GAPDH GAS1 GBA3 GFRA4 GGT1 GLA GLB1 GLDC GLT1D1 GNPDA2 GPX1 GPX3 GSTO2 HACD1 HAS2 HEXB HPGDS HPSE2 HSD11B2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP4A ISYNA1 ITLN1 ITPKA KLRB1 KLRD1 LCT LEP LGALS1 LGALS3 LGALS9 LIPA LIPG LPCAT1 LPCAT3 LPIN2 LTA4H LTC4S LYNX1 MANBA MBL2 MRC1 NT5E OGG1 ORMDL1 ORMDL2 OTOG PAFAH1B1 PARP14 PARP1 PARP9 PC PDIA3 PGAP3 PGD PGM3 PGP PIGX PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G4C PLA2G6 PLA2G7 PLA2R1 PLAUR PLB1 PLCG1 PLD1 PNPLA3 PRG2 PRNP PSAP PTEN PTGDS PTGES PTGS1 PTGS2 RGMB SCD SDC4 SDHD SELE SELL SELP SFTPA1 SFTPA2 SFTPC SFTPD SIGLEC1 SIGLEC8 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC27A5 SLC2A10 SLC33A1 SMC3 SMPD1 SOAT1 ST6GAL1 STS TALDO1 TBXAS1 TLR10 TLR1 TLR2 TLR4 TLR6 TM7SF2 TMTC2 TNF TPI1 UGT1A1 UGT1A3 UGT1A6 VCAM1 VNN1	1012 10162 10333 10462 1048 1056 10584 10682 10998 1103 11141 1116 1118 11332 1178 119391 120227 125 128 1298 1312 132789 142 144423 151056 1543 1544 1545 1551 1555 1557 1558 1571 1573 1576 1577 1583 1591 1593 1594 1603 160335 1605 1607 1608 160851 1634 1636 189 1942 202 2023 2026 217 218 2181 2208 2215 224 22918 22925 22933 231 23274 240 246 247 249 2524 2539 2597 26033 2619 26253 26503 2678 27087 27159 2717 27180 27181 2720 27306 2731 28 283871 285704 2876 2878 29095 2923 30 3037 307 3074 308 30835 3291 3383 340990 3423 353 3554 3631 3706 3820 3824 3938 3952 3956 3958 3965 3988 3992 4048 4051 4056 410 412 4126 4153 43 4360 4680 4907 4968 501 5048 5091 51477 51548 5167 5226 5238 5290 5291 5293 5294 5319 5320 5321 5329 5335 5337 54578 54625 54658 54659 5476 54965 5553 55600 5621 5660 5728 5730 5742 5743 57511 57733 60495 6319 6385 6392 6401 6402 6403 64096 64377 6440 64409 6441 64581 6480 653509 66004 6609 6614 6646 683 6888 6916 7096 7097 7099 7108 7124 7167 729238 7412 7941 79888 80339 81031 81793 83666 8395 8398 8399 8455 847 8526 8605 8807 8809 8876 912 9126 9173 9197 9200 929 93210 9388 94101 9415 945 952 9536 960 962 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	AKR1C1 AKR1C2 ENPP1 MMP25 TMEM165	1645 1646 5167 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110506	autosomal recessive nonsyndromic deafness 49 Aliases: DFNB49 autosomal recessive deafness 49	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)	DisGeNET
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	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)	DisGeNET
DOID:0110047	Alzheimer's disease 14 Aliases: AD14 Alzheimer disease 14 Alzheimer's disease 14, late onset	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 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 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)	DisGeNET
DOID:2214	obsolete inherited blood coagulation disease	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 CYP7B1 DDOST ENO1 ENPP2 GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP	10855 11332 151056 1650 2023 229 23600 25839 27163 3958 3998 410 4351 5091 51266 5168 5290 5321 570 5742 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)	DisGeNET
DOID:0110850	xeroderma pigmentosum group B Aliases: XP group B XPB XPBC	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ACE CHI3L1 ICAM1 KLRK1 MBL2 PIK3CD SELE SFTPA1 SFTPD VCAN	1116 1462 1636 22914 3383 4153 5293 6401 6441 653509	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	CD22	933	Homo sapiens (human)	DisGeNET
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ACE AKR1A1 ALDH2 ICAM1 KL PCYT1A SMUG1	10327 1636 217 23583 3383 5130 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:327	syringomyelia	CD38 CNTN2 CYP2U1 ERLEC1 GNPTAB HPRT1 IL18RAP PTGS2 SMUG1 TMTC1	113612 23583 27248 3251 5743 6900 79158 83857 8807 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111102	maturity-onset diabetes of the young type 3 Aliases: MODY type 3 MODY3	GCK	2645	Homo sapiens (human)	DisGeNET
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	PTGS1	5742	Homo sapiens (human)	DisGeNET

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