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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 **4251 - 4275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110037	Alzheimer's disease 5 Aliases: AD5 Alzheimer disease 5 Alzheimer disease, familial 5 Alzheimer's disease 5, 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 DisGeNET
DOID:0110035	Alzheimer's disease 2 Aliases: AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2	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 DisGeNET
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	ABAT 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 CEACAM6 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 EXT1 EXT2 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 18 1946 196051 200576 2023 2026 2053 2131 2132 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 4680 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 DisGeNET DisGeNET DisGeNET
DOID:1443	cerebral degeneration Aliases: Brain degeneration	ABO ACACA ACADVL ACAT1 ACE ACER3 ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADH1B ADPRS AGA AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALG11 ALG13 ALG1 ALG3 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATP6AP2 ATP6V1A ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GLCT BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG1 COG4 COG5 COG6 COG7 COLGALT1 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 DSE EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FH FOLR2 FUCA1 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GBA2 GFRA1 GGT1 GLB1 GLO1 GLUL GM2A 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 LMAN2L LPL LTC4S LYZ LYZL4 MAG MAN1B1 MAN2B1 MASP1 MBL2 MBOAT7 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MOGS MPDU1 MPG MPI MRC1 NAAA NAGA NAMPT NANP NANS NCAM1 NDST1 NEU1 NGLY1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCCA PCCB PCK1 PCYT1A PCYT1B PCYT2 PDHA1 PEMT PFKFB3 PGAP1 PGD PGP PI4KA PIGC PIGG PIGL PIGN PIGT PIGU 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 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL3 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG1 SUCLG2 SUMF1 SYNJ1 TECR TIGAR TKT TM7SF2 TMED9 TPI1 TUSC3 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11253 11332 11343 1178 1203 125 1272 128869 130749 1312 131375 132789 1374 140838 142 1431 145173 1462 1464 148789 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 175 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 2271 22933 23127 23236 23274 23305 2350 23556 23583 23646 23659 239 240 248 250 2517 2539 2571 2572 25839 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 2760 28 2817 2821 283871 285362 2876 2990 29940 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3340 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 4125 4153 4191 4241 4248 427 43 4350 4351 4360 440138 4594 4668 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5095 5096 5105 51084 51266 5130 51478 51548 5160 51604 5168 51763 5209 5226 523 5279 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 54872 54936 55331 5538 55512 5553 5563 55741 55753 55768 55902 55997 56052 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 57511 57704 5833 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6487 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 7841 79143 79154 7941 7957 79709 79712 79868 7991 79947 79966 80055 80142 80896 811 81562 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8802 8803 8867 8877 9023 9104 9173 91949 9197 929 9365 9382 9388 9420 945 9468 9487 952 9524 9526 9536 960 9672 972 9791 9957	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14525	Reye syndrome Aliases: Reye's syndrome	ABO ACACA ACADM ACADS 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 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CPT2 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 EXT1 EXT2 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 HADHA 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 SLC17A5 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 1376 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 2131 2132 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 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3030 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 34 3417 3418 346606 3482 35 353 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 4680 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 DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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:841	extrinsic allergic alveolitis Aliases: alveolitis hypersensitivity pneumonitis	ACE ATP6AP2 CEL CHI3L1 CYP2E1 LGALS9 PARP9 SFTPA1 SLC27A5 TNF	10159 1056 10998 1116 1571 1636 3965 653509 7124 83666	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	ATP6AP2 CEL CHI3L1 LGALS9 PARP9 SLC27A5 TNF	10159 1056 10998 1116 3965 7124 83666	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110029	alpha thalassemia-intellectual disability syndrome type 1 Aliases: ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1	COL9A2 G6PD PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)	DisGeNET
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	COL9A2 G6PD IDH1 IDH2 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 3417 3418 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	COL9A2 G6PD PC PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5091 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	COL9A2 G6PD GPX1 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 2876 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	ABO ACOT7 CD177 CD38 CD55 CHIT1 CHPT1 COL9A2 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 G6PD H6PD HACD1 HJV HK1 HPGDS LPCAT3 NAAA OGA PC PGD PKD1 PKLR SCD SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS VCAM1	10162 10724 1118 11332 1298 1374 1376 148738 1571 1576 1604 2539 27163 27306 28 3098 5091 51084 5226 5310 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6319 7124 7355 7358 7372 7412 9200 952 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:986	alopecia areata Aliases: Circumscribed alopecia	ABO ACE CLEC16A ICAM1 LGALS8 SOAT1	1636 23274 28 3383 3964 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:987	alopecia	ABO ACAT1 ACE ACER1 AGA AGXT AKR1C4 ALOX12B ATP6V0A2 CERS3 CYP17A1 CYP19A1 CYP27B1 DCN DGAT1 EBP EOGT FADS2 FAR2 FUT3 HPGDS HSD11B1 HSD3B1 ICAM1 KDSR KLRK1 LSS PARP1 PCYT1A PLCD1 PNPLA6 PRNP PRSS8 PTGDS PTGS2 SHMT1 SOAT1 SRD5A1 SRD5A2 ST3GAL4 STS VCAN	10682 10908 1109 125981 142 1462 1586 1588 1594 1634 1636 175 189 204219 22914 23545 242 2525 2531 27306 28 285203 3283 3290 3383 38 4047 412 5130 5333 55711 5621 5652 5730 5743 6470 6484 6646 6715 6716 8694 9415	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	CHIT1 SMUG1	1118 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14223	ochronosis	CHIT1 SMUG1	1118 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ABAT ABO ACADS ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1B1 ALDH2 ALDH3B2 ANGPTL3 ANXA4 APRT ARSA ATP1A2 CAT CD14 CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ECHS1 FADS1 FADS2 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GSTO1 GSTO2 GUSB HPGDS HSD11B2 HSPG2 HTR2A IGF2 IL18R1 IL1R1 IMPA1 KL LYZ MGLL NCAM1 NCAN NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PPP1R3B PPP1R3C PRSS21 SHMT1 SHMT2 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST6GAL1 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 119391 124 125 126 127 128 130 131 1312 1463 152330 1555 1571 1576 1577 1588 1636 18 1892 207 208 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 27329 2752 2760 28 2990 307 3291 3339 3356 3481 35 353 3554 3612 3992 4051 4069 410 4684 477 5091 5290 5291 5293 5294 5471 54916 5507 55902 64116 6470 6472 6480 6609 6715 6716 7086 7369 7903 79660 80339 80896 83666 847 8644 8809 929 9365 9415 9446	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	ABAT ABO ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 ALDH1B1 ALDH2 ALDH3B2 APRT ARSA CAT CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP1A1 CYP2B6 CYP2E1 CYP3A5 ECHS1 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GUSB HPGDS HSD11B2 HSPG2 HTR2A IL18R1 IL1R1 IMPA1 KL LEP LYZ MGLL NCAM1 NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PRSS21 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 124 125 126 127 128 130 131 1312 152330 1543 1555 1571 1577 1588 1636 18 1892 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 2752 2760 28 2990 3291 3339 3356 353 3554 3612 3952 4069 410 4684 5091 5290 5291 5293 5294 5471 54916 55902 64116 6609 6715 6716 7086 7369 7903 80339 80896 83666 847 8644 8809 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:576	proteinuria	ACE ACSL4 CD38 CD55 CTNS CYP11B1 DCN DGKE DLST EHHADH FH FUT1 G6PC1 GALT GBA1 GLA GPC5 GUSB HPSE2 HPSE ICAM1 LCAT LEPR LPIN2 LYZ MDH2 MGAT5 NEU1 OCRL PLA2G7 PLCE1 PMM2 PTGS2 SDC1 SDHA SDHB SDHC SDHD SGPL1 SLC35A1 SLC37A4	10559 10855 1497 1584 1604 1634 1636 1743 1962 2182 2262 2271 2523 2538 2542 2592 2629 2717 2990 3383 3931 3953 4069 4191 4249 4758 4952 51196 5373 5743 60495 6382 6389 6390 6391 6392 7941 8526 8879 952 9663	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	IDS	3423	Homo sapiens (human)	DisGeNET
DOID:0110949	Waardenburg syndrome type 3 Aliases: Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies	IDS	3423	Homo sapiens (human)	DisGeNET
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	IDS	3423	Homo sapiens (human)	DisGeNET
DOID:0060834	Griscelli syndrome type 3 Aliases: GS3 Griscelli-Prunieras syndrome type 3	IDS	3423	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

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