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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 **3926 - 3950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	ALPI ALPP CD1D DPEP1 FUT1 HPGDS HPRT1 PLCG1	1800 248 250 2523 27306 3251 5335 912	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	ABO ACACA ACACB ACADSB ACAN ACE ACHE ACOT7 ACSL1 ACSM3 ACSS2 ADH1B ADH1C ADH5 AGA AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH2 ATP6AP2 B3GAT1 B4GALNT1 B4GALT1 B4GALT5 BAAT CALR CANX CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEL CEPT1 CERS2 CHAT CHGA CHI3L1 CHIT1 CHST3 CLEC16A CLEC1B COMT CPT1A CPT2 CS CSGALNACT1 CTNS CYB5R4 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKQ DHCR7 DLAT DLD DSE EFNA1 ELOVL3 ELOVL4 ELOVL5 ENO1 ENO2 ENPP1 EXT2 FADS1 FADS2 FASN FBP1 FCER2 FCGR3B FCN2 FDPS FKRP FOLR2 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT3 GAPDHS GAS1 GBA3 GBE1 GCK GFPT1 GGT1 GLA GLB1 GLO1 GLUL GNPNAT1 GPI GPIHBP1 GPX1 GPX3 GUSB GYS1 H6PD HACD1 HAS2 HJV HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B4 HSD17B7 HSD3B1 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPP5F INPPL1 IPPK ISYNA1 ITLN1 ITPK1 KDSR KL KLB KLRC3 KLRD1 KLRK1 LDHB LDHC LGALS1 LGALS2 LGALS3 LGALS4 LIPC LPIN1 LPIN2 LPL LY6G6D LYPD5 LYZ MASP1 MASP2 MBL2 MBOAT7 MDH2 MGAM MGAT1 MGAT2 MGAT5 MICA MIOX MMUT MOGAT2 MPG MPI MTM1 MUTYH NAAA NAGLU NAMPT NCAM1 NDST1 OGA OGG1 OGT OLR1 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHX PEMT PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PIP5K1B PKD1 PKLR PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB3 PLCG1 PMM2 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PRKCSH PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGIS PTGS1 PTGS2 REG1B RENBP RFT1 RTN4R SACM1L SCD SDC2 SDC4 SELE SELL SELP SFTPA1 SFTPC SFTPD SGSH SI SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC33A1 SLC35A1 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA4 STS SUCLA2 SULT1E1 TALDO1 TKFC TKT TKTL1 TKTL2 TM7SF2 TREH UGCG UGT1A1 UMOD UPP1 VCAM1 VCAN VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10390 10400 1048 10554 10555 10559 1056 10724 10747 10855 10942 1103 1113 1116 1118 11181 11332 120227 123099 125 126 128 1312 1374 1376 142 1431 1462 148738 1497 151056 152831 154091 1543 1544 1555 1557 1559 1571 1573 1576 1577 1579 1581 1582 1585 1588 1589 1591 1593 159371 1594 1604 1609 1634 1636 1646 1650 1717 1737 1738 175 176 1942 2023 2026 2132 217 2180 2194 2203 2208 2215 2220 2224 224 22876 22908 22914 22933 231 23175 23236 23274 23409 2350 23583 23659 239 240 247 248 250 2524 2531 2538 2539 2542 2571 2572 2583 2588 2591 26007 2619 2632 26330 2645 26503 266722 2673 2678 2683 27036 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2990 29940 29956 2997 29988 3037 308 30835 3098 3099 31 3158 32 3251 3283 3290 3291 3295 3339 3340 3383 338328 3482 353 3554 36 3635 3636 3705 3823 3824 3945 3948 3956 3957 3958 3960 3990 3992 4023 4069 410 412 4153 4191 4245 4247 4249 43 4350 4351 4534 4594 4595 4669 4684 4968 4973 5091 5105 5106 51167 51266 5130 51477 51478 51548 5167 5209 5236 5290 5291 5293 5294 5310 5313 5319 5320 5329 5331 5335 5373 54658 5506 55586 55600 5563 55790 5589 55902 5648 5652 56624 56848 570 57016 57104 5716 5728 5730 5740 5742 5743 57733 57818 58530 5968 5973 60481 60495 6296 6319 6383 6385 6401 6402 6403 64116 64131 64132 6440 6441 6448 6476 64768 6480 6484 64841 65078 6514 6515 6517 6519 6523 653509 6609 6646 6652 6716 6718 6783 6785 6888 7086 7108 7357 7369 7378 7412 7903 79143 79147 7941 79679 79837 80168 80339 8050 81031 811 821 8277 83401 8395 8398 8399 84076 847 8473 8560 8694 873 8778 8803 8807 8809 8877 8972 912 9173 91869 9197 9200 929 9334 9365 9394 9415 9420 945 9468 9469 9514 952 9563 960 962 9663 972 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)	DisGeNET
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	ASAH1 PSAP	427 5660	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)	DisGeNET
DOID:0060585	Noonan syndrome 7 Aliases: NS7	ACADS AMT ARSA ARSD B4GALT7 BAAT BRAF CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 673 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110048	Alzheimer's disease 15 Aliases: AD15 Alzheimer disease 15 Alzheimer's disease 15, 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:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	GPC1	2817	Homo sapiens (human)	DisGeNET
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB COG3 CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 83548 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050747	obsolete lymphoplasmacytic lymphoma	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABO ACACA ACACB ACADS ACAN ACAT1 ACAT2 ACE ACHE ACLY ACOT2 ACOT7 ACSL1 ACSS2 ADH1A ADH1B ADH1C ADH5 ADIPOQ ADRB3 AGPAT2 AGXT AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH6A1 ALDOA ALOX12 ALOX15 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ARSB ARSD ARSI ASGR1 ATP6AP2 ATP6V0A2 B3GAT1 B4GALNT1 B4GALNT2 B4GALT1 CACNA2D2 CALR CANX CAT CD14 CD1D CD248 CD44 CD74 CD93 CDH13 CEL CERS1 CFC1 CH25H CHGA CHI3L1 CHIT1 CHST3 CHST9 CLEC10A CLEC1B CLEC6A CLEC7A CLEC9A CNTN3 COG2 COG5 COG6 COMT CPT1A CPT2 CS CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DAG1 DCN DGAT1 DGKK DHCR24 DHCR7 DLAT DLD DPEP2 DPEP3 EBP EFNA5 ELOVL2 ELOVL6 ENPP1 ENPP7 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FCN1 FCN2 FCN3 FDPS FMOD FOLR2 FUT3 FUT8 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GALNT4 GALNT7 GAPDH GCK GGT1 GK GLO1 GLT1D1 GLUL GPD1L GPI GPIHBP1 GPLD1 GPX1 GPX3 GUSB GYG1 H6PD HADHA HAS2 HAS3 HJV HK1 HK2 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSPG2 ICAM1 IDH2 IGF2R IL18R1 IL1R1 IL1RAP IL1RL1 INPP5D INPP5K ISYNA1 ITLN1 ITPK1 KL KLRK1 LCAT LCT LDHA LEPR LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL LSS LTA4H LTC4S LYZ MAG MBL2 MCFD2 MGAM MGLL MICA MMP17 MPI MRC1 MTAP NAAA NAGLU NAMPT NANS NCAM1 NDST4 NDUFAB1 NEU1 NT5E OGA OGDH OGG1 OLR1 OXCT1 PAFAH2 PARP12 PARP1 PARP2 PARP3 PC PCYT1A PCYT1B PDHA1 PEMT PFKFB3 PFKL PFKM PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G5 PLA2G6 PLA2G7 PLAUR PLB1 PLCD1 PLCD3 PLCG1 PLCG2 PLPP3 PNP PNPLA2 PNPLA3 PPARA PPP1R3B PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 PYGB PYGM RBP4 RENBP RGN RPN1 SACM1L SCD SDC1 SDC4 SELE SELENOI SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC1 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A12 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35G1 SLC39A8 SLC5A1 SMC3 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SOAT2 SPHK1 SPHK2 SRGN ST3GAL4 ST6GAL1 ST6GALNAC5 ST8SIA1 ST8SIA4 STS SUCLA2 SULT1E1 TBXAS1 TLR4 TM7SF2 TNF TP53 TPI1 TYMP UGCG UGT1A1 UGT1A6 UMOD UMPS VCAM1 VCAN VNN1	10038 10039 100507436 1012 10135 10159 10162 10327 10400 10462 10466 10555 10559 1056 10682 10715 10724 10855 10965 1113 1116 1118 113026 11332 11343 120227 124 124872 125 126 128 1312 1374 1376 139189 142 1431 144423 1462 148738 151056 154091 1543 1544 1545 155 1555 1557 1558 1559 1571 1573 1576 1577 1579 1581 1585 1586 1588 1589 1593 159371 1594 1605 1634 1636 166929 1717 1718 1737 1738 176 189 1890 1946 2053 2137 217 2180 219 2215 2219 2220 2224 226 22796 22908 22914 22918 22933 231 23171 2331 23409 2350 23545 23583 23659 239 240 246 247 249 2525 2530 2539 2571 2583 2590 2591 2597 26279 2645 26503 2678 2683 27087 2710 27163 27306 2739 2752 28 2821 2822 283420 2876 2878 2990 2992 3030 3037 3038 308 3098 3099 31 3158 32 3290 3339 3383 338328 339221 340075 3418 3482 35 353 3554 3556 3635 3705 38 39 3931 3938 3939 3953 3957 3958 3988 3990 3992 3998 4023 4047 4048 4056 4069 4099 410 411 412 414 4153 43 432 4326 4329 4351 4360 4507 4669 4684 47 4706 4758 4860 4907 4967 4968 4973 5019 5051 5067 5091 51266 5130 51477 51548 5160 5167 51763 51809 5209 5211 5213 5236 5281 5286 5290 5291 5293 5294 5310 5315 5319 5320 5321 5322 5329 5333 5335 5336 54187 54578 5465 54658 54898 55512 5552 55600 5563 55902 55997 5621 56848 57016 57104 57124 5728 5730 5740 5742 5743 57511 5834 5837 5950 5973 60495 6184 6319 6382 6385 6401 6402 6403 64116 64174 64180 6441 64579 64581 6476 64761 6480 6484 6489 6515 6517 6523 653509 6609 6610 6614 6646 6783 6916 7099 7108 7124 7157 7167 729238 7357 7369 7372 7412 7903 79071 7941 79660 80339 811 81849 821 83539 8398 8399 8435 847 8482 8529 85465 8547 8613 8693 8694 8803 8809 8876 8877 8879 8972 9023 90411 9104 912 9126 9173 9197 9254 929 9365 9370 9388 93978 9415 9468 9469 9514 9536 9563 960 972 9957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:6581	breast apocrine carcinoma	GGT1	2678	Homo sapiens (human)	DisGeNET
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)	DisGeNET
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 CD44 PARG PARP1	142 230 468 8505 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	ABO FIG4 GAL3ST1 SLC35A1	10559 28 9514 9896	Homo sapiens (human)	DisGeNET
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SULT1E1	130749 1312 2629 27163 3340 410 6783 8398 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR HSD17B4	23600 3295	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CHI3L1 FCER2 HPRT1 IL18R1 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG UNG	1116 2208 3251 4360 5290 5291 5293 5294 7374 8809	Homo sapiens (human)	DisGeNET

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