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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15801 - 15825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:9974	drug dependence	ABCB1 ACHE COMT CREB1 CYP2B6 NCAM1 OPRM1	1312 1385 1555 43 4684 4988 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ABCB1 ACHE ALDH5A1 ALDH7A1 ANK2 ARX ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B3 ATP4B ATP6V0C AZGP1 BCHE BDKRB1 BDKRB2 BMP4 BSN C1QA CACNA1A CACNA1B CACNA1E CACNA2D2 CAMK2D CAPN1 CDK5 CDK5R2 CDYL CHKA CHKB CHL1 CIT CP DEPDC5 DHX9 DYNC1H1 EEF1A1 EEF1A2 ERBB4 ETNK1 ETNK2 FLNA FOS GABRB3 GABRG2 GAD1 GAD2 GAPDH GDNF GRIA1 GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D GRM8 HES1 IL6 ITGA3 ITGA6 ITGA7 KALRN KCNA10 KCNA1 KCNA2 KCNA3 KCNA4 KCNA7 KCNH1 KCNH2 KCNH5 KCNH6 KCNH7 KCNK17 KCNK18 KCNT1 KCNT2 KIF4A L1CAM LGI1 LRP1 LRP1B MAP4K4 MAPT MIF MINK1 MMP9 NFASC NOS1 NOS2 NOS3 NRCAM NRG1 NUS1 PGF PPIA PRICKLE1 PRICKLE2 PRKG1 RAB3B RAC1 RAC2 RELA RHOG RIPK1 SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SIRT1 SLC12A1 SLC12A2 SLC12A3 SLC12A4 SLC12A5 SLC12A6 SLC12A7 SLC13A1 SLC13A3 SLC13A5 SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 SLC24A3 SLC24A4 SLC25A6 SLC6A1 SLCO5A1 STRADA STXBP1 SV2A SYN2 TMTC3 TNF TNIK TRIO UBE3A UNC13A UNC13B	1020 10497 10723 10752 11113 1119 1120 11280 116150 123041 1356 144165 160418 1660 166336 170302 1778 1915 1917 2066 23025 23043 23114 2316 23411 2353 24137 2562 2566 2571 2572 2597 2668 27133 284111 287 2890 2902 2903 2904 2905 2906 2918 293 3084 3280 338567 343450 3569 3655 3675 3679 3736 3737 3738 3739 3743 3744 3756 3757 3897 391 4035 4137 4282 43 4318 476 477 481 482 483 4842 4843 4846 4897 496 501 50488 5228 5243 527 53353 5478 55224 55500 5592 563 57419 57468 57582 5865 5879 5880 590 5970 623 624 6323 6326 6328 6329 6331 6332 6334 6335 6336 64849 6505 6507 6509 6510 6511 6512 652 6529 6557 6558 6559 6560 6561 6812 6854 712 7124 7204 7337 773 774 777 7915 81033 817 81796 823 8737 8927 8941 89822 8997 90134 9211 92335 9254 9425 9448 9681 9900 9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	ABCB1 ACE CCL11 CD40 CD40LG F2 FCGR3A HLA-G IFNG IL10 IL13 IL13RA2 IL17A IL2 IL4 IL5 ITGB2 MUC1 MUC5AC NOD2 PON1 PRKG1 TACR1 TGFB1 TLR2 TLR4 TLR9	1636 2147 2214 3135 3458 3558 3565 3567 3586 3596 3598 3605 3689 4582 4586 5243 54106 5444 5592 6356 64127 6869 7040 7097 7099 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ABCB1 ACE ADORA1 ADRB1 BDNF BMP7 CCL2 CCL5 CYSLTR1 CYSLTR2 EDN1 EDNRA GHRL GHSR HP ICAM1 IL10 IL6 LEP LEPR MMP9 MUC1 NGF NOS2 NOS3 NR3C1 NRG1 NTRK1 PLA2G7 PTGS2 RELA SERPINE1 SFTPB SLC6A4 TNF TNFRSF1A	10800 134 153 1636 1906 1909 2693 2908 3084 3240 3383 3569 3586 3952 3953 4318 4582 4803 4843 4846 4914 5054 51738 5243 57105 5743 5970 627 6347 6352 6439 6532 655 7124 7132 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABCB1 ACE ADIPOQ CAT CYP3A4 F2 IL6 LPA MEFV NOD2 POMC SERPINE1 THBD TLR4	1576 1636 2147 3569 4018 4210 5054 5243 5443 64127 7056 7099 847 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE ADIPOQ CAT CCL2 CCR5 CD40LG CFB CPB2 CTLA4 CYP1A1 DHCR7 EDN1 F5 FAS FCGR3A HLA-B HLA-DMA HLA-DMB HLA-DQB1 HLA-DRB1 ICAM1 IFNG IL10 IL17A IL1RN IL21R IL23R IL2 IL4 IL6 ITGA2 ITGAM MBL2 MMP2 MMP9 NOD2 NOS3 PON1 PROZ SERPINE1 SLC11A1 SOD1 STAT3 STAT4 TGFB1 TLR2 TLR3 TLR4 TNF TNFRSF1A VEGFA VIM VWF	1234 1361 149233 1493 1543 1636 1717 1906 2153 2214 3106 3108 3109 3119 3123 3383 3458 355 3557 3558 3565 3569 3586 3605 3673 3684 4153 4313 4318 4846 5054 50615 5243 5444 629 6347 64127 6556 6647 6774 6775 7040 7097 7098 7099 7124 7132 7422 7431 7450 847 8858 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	ABCB1 ABO ACE ACSL3 ADAM33 ADAM8 ADH5 ADORA1 ADORA2A ADRB2 AGER AGTR1 AGTR2 ALOX5 AMBP BDKRB2 BDNF BMPR1B BMPR2 C3 C3AR1 C5 C5AR1 CAT CCL11 CCL1 CCL24 CCL2 CCL5 CCL7 CCR2 CCR3 CCR4 CCR5 CCR9 CD14 CD209 CD28 CD40 CD86 CDH1 CFTR CHAT CHI3L1 CHIA CHML CHRM1 CHRM2 CHRM3 CLCA1 CMA1 CRHR1 CRHR2 CSF2 CSF2RB CSF3 CTLA4 CX3CL1 CXCR3 CYP2E1 CYSLTR1 CYSLTR2 DCN DEFB1 DPP10 EDN1 EDNRB EGFR EGR1 EPX F2 F2RL1 F7 FAS FCER1A FCGR2A FCGR3A FGA GATA3 GC GSTO2 HAVCR1 HDAC2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HLA-G HMGCR HP ICAM1 IFNG IFNGR1 IFNL1 IL10 IL12B IL13 IL13RA1 IL13RA2 IL15 IL16 IL17A IL18R1 IL19 IL1A IL1RL1 IL1RN IL21 IL22 IL2 IL2RA IL2RB IL3 IL4 IL4R IL5 IL5RA IL6 IL9 IL9R IRAK3 ITGB3 ITGB6 ITPR1 KDR LEP LGALS3 LTA4H LTA MBL2 MEFV MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B MUC7 MYLK NFE2L2 NGF NOD2 NOS1 NOS2 NOS3 NPSR1 NR3C1 NTF3 NTRK1 ORMDL1 ORMDL2 P2RY12 PARP1 PDGFB PGF PLA2G4A PLA2G7 PLAU PRF1 PRG2 PRMT5 PROC PTGDR2 PTGDR PTGER3 PTGS2 RHOA RUNX3 SERPINA1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SLC18A3 SLC22A1 SLC5A7 SLC6A4 SOD2 STAT1 STAT4 STAT6 TACR1 TACR2 TAP1 TBXA2R TGFB1 THBD TLR10 TLR1 TLR2 TLR3 TLR4 TLR6 TLR9 TNC TNF TRPA1 VEGFA	101 10333 10419 1080 10800 10803 1103 1116 11213 1122 11251 1128 1129 1131 1179 119391 1215 1232 1233 1234 128 134 135 1394 1395 142 1437 1439 1440 1493 154 1571 1634 1636 1672 177 185 186 1906 1910 1956 1958 2147 2150 2155 2181 2205 2212 2214 2243 240 259 2625 2638 26762 27159 28 282618 2833 2908 29095 29949 3066 30835 3106 3113 3115 3117 3118 3119 3122 3123 3125 3135 3156 3240 3371 3383 3458 3459 355 3552 3557 3558 3559 3560 3562 3565 3566 3567 3568 3569 3578 3581 3586 3593 3596 3597 3598 3600 3603 3605 3690 3694 3708 3791 387 387129 3952 3958 4048 4049 4153 4210 4282 4318 4353 4582 4583 4586 4589 4638 4780 4803 4842 4843 4846 4908 4914 5054 50616 5155 5228 5243 5265 5321 5328 54106 5551 5553 5624 57105 5729 5733 5743 57628 59067 60482 624 627 6346 6347 6352 6354 6356 6369 6376 64127 6439 6440 6441 64805 6532 653509 6572 658 6580 659 6648 6772 6775 6778 6865 6869 6890 6915 7040 7056 7096 7097 7098 7099 7124 718 719 727 727897 728 729230 729238 7422 7941 80332 81793 8288 847 864 8809 8989 9173 929 940 94101 942 958 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	ABCB1 ABCG2 CAT DRD2 EPHA4 IGF1R IL10 SLC18A2	1813 2043 3480 3586 5243 6571 847 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABCB1 ABCG2 ADGRB1 AFP AGTR1 AGTR2 AKT1 AKT3 ALOX12 AMACR ANGPT1 ANXA1 ANXA2 APC ARNT BAD BIRC2 BMP4 BMP6 BMP7 BSG BTG2 C4A C4B CA9 CAD CD44 CD46 CDH1 CDKN1B COMT CSF1R CTLA4 CTNNA1 CTNNB1 CYP1A1 DLL4 EGFR EPAS1 ERBB2 ERBB4 FAS FGFR1 FLCN FLT1 FN1 FRS2 FTO HAVCR1 HAVCR2 HIF1A HLA-DRB1 HNF1A IGF1R IGFBP3 IGFBP7 IL1RN IL2 IL4R INSR JUN JUP KANK1 KCNH1 KDM4C KDM6A KDM6B KIT KLK6 KRAS LEP LNPEP LTF MAP2K1 MET MLH1 MMP1 MMP2 MMP3 MMP9 MSH2 MTOR MUC1 MYC NME1 NR3C1 NRP1 OGG1 PAK1 PBRM1 PCNA PDCD1 PDGFRA PDGFRB PDPN PFAS PGF PLAU PLD2 PPAT PTEN PTGS1 PTGS2 RB1 RELA SFRP1 SKP2 SLC49A4 SMAD4 SMARCC1 SPARC ST14 STAT3 TERT TFE3 TFRC TGFB1 THRA TIMP1 TIMP3 TLR9 TNF TNFRSF10A TNFRSF1A TNFRSF1B TP53 TSC2 TYMP VEGFA VEGFC VWF WIF1 WNT11 XIAP XRCC1	10000 1027 10630 10818 11197 1312 1436 1493 1495 1499 1543 174 185 186 1890 1956 201163 2034 2064 2066 207 2260 23081 23135 23189 2321 2335 23600 239 2475 26762 284 2908 301 302 3091 3123 324 329 331 3480 3486 3490 355 3557 3558 3566 3643 3725 3728 3756 3815 3845 3952 4012 405 4057 4089 4179 4233 4292 4312 4313 4314 4318 4436 4582 4609 4830 4968 5058 5111 5133 5156 5159 5198 5228 5243 5328 5338 54106 54567 5471 55193 5604 5653 572 5728 5742 5743 575 5925 5970 6422 6502 652 654 655 6599 6678 6768 6774 682 6927 7015 7030 7037 7040 7067 7076 7078 7124 7132 7133 7157 720 721 7249 7403 7422 7424 7450 7481 7515 768 7832 790 79068 84868 84925 8797 8829 9429 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABCB1 ABCE1 ATM C3 CCL11 CCL2 CCL5 CCR2 CCR5 CD163 CD209 CD274 CD40 CD40LG CD68 CR2 CXCR1 CYP2B6 EPHB2 FAS FCGR3A GC HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL10 IL15 IL21 IL21R IL6 KIR3DL1 KIR3DS1 KMT2E LEPR MBL2 MKI67 NEFL NEFM OPRM1 PDCD1 PLA2G2A PLAUR PPIA PRF1 PTGS2 SELP SERPINA1 SOCS3 STING1 TLR3 TNF TREM1	1234 1380 1555 2048 2214 2638 29126 30835 3106 3107 3117 3119 3122 3123 340061 3458 355 3569 3577 3586 3600 3811 3813 3953 4153 4288 472 4741 4747 4988 50615 5133 5243 5265 5320 5329 54210 5478 5551 55904 5743 59067 6059 6347 6352 6356 6403 7098 7124 718 729230 9021 9332 958 959 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ABCB1 ABCC2 ABL1 ACVR1B ADAM28 AGER AKT1 AKT3 ALB ARID1A ARPC5 ATM BAD BAG6 BAMBI BAX BCL11A BCORL1 BIRC2 BRCA1 BRD7 CA12 CA9 CALR CASP6 CASP7 CASP9 CBL CDH13 CDKN1B CHI3L1 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L CMPK1 CSF1R CUX1 CXCR4 CYP24A1 DDR1 DDR2 DNMT1 E2F1 EEF2 EGF EGFR EGR1 EIF4EBP1 EPAS1 ERBB3 ERCC5 ERCC6 ESR1 EZH2 FAP FAT1 FGF9 FGFR1 FGFR4 FH FOSL2 FOXA1 FOXL2 FOXP1 FRZB GPX1 GRP HDAC3 HIF1A HNRNPA1 HNRNPA2B1 HS3ST2 ICAM1 IDH2 IKZF2 IKZF3 IL1A IL1RN IL7 IL7R IRS4 ITGA9 ITGB1 ITGB3 JAK1 JUNB KAT2A KDM2A KDM3B KDM6A KDR KMT2C KMT2D L1CAM LAMB3 LAMC2 LEP LRP1B LTA LTF MAP2K4 MAP3K1 MET MIF MKI67 MLH1 MMP2 MMP9 MSH2 MYD88 NCOA2 NF1 NFKB1 NR3C1 NRP1 NSD2 NUF2 PBRM1 PDPK1 PECAM1 PLAU PLCG1 POLE PREX2 PRKAA1 PTEN PTGES PTGS2 PTPRB RARB RELA ROBO1 RRM1 RUNX1 RUNX2 RUNX3 SDHA SDHC SERPINF1 SFTPB SFTPD SLC3A2 SLC7A5 SMARCA4 SOX30 SPOP SPP1 STAT3 STAT5B STIM1 TAB2 TERT TET2 THBD TIMP3 TK1 TLR9 TNF TNFRSF1A TP53 TTR TYMP UBR5 UGT1A1 VEGFA XPO1 XPO5 XRCC1 ZFHX3	10000 10092 1012 1027 10499 10863 11063 1116 1136 1138 1139 1143 1244 1436 1523 1591 177 1786 1869 1890 1938 1950 1956 1958 1978 2034 2065 207 2073 2074 2099 213 2146 2191 2195 2254 2260 2264 2271 22806 22807 22992 23118 2355 2487 25 25805 2648 27086 2876 2908 29117 2922 3091 3169 3178 3181 329 3383 3418 3552 3557 3574 3575 3680 3688 3690 3716 3726 3791 3897 3914 3918 3952 4049 4057 4214 4233 4282 4288 4292 4313 4318 4436 4615 463 472 4763 4790 4921 51366 5170 51727 5175 5176 51780 5243 5328 53335 5335 53353 54106 5426 54658 54790 55193 5562 572 5728 5743 57510 5787 581 58508 5915 5970 6091 6240 63035 6389 6391 6416 6439 6441 6520 6597 668 6696 672 6774 6777 6786 7015 7056 7078 7083 7124 7132 7157 7276 7403 7422 7468 7514 7515 768 771 780 7852 7917 80243 8085 81037 811 8140 8289 83540 839 840 8405 842 8471 860 861 864 867 8829 8841 91 9536 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABCB1 ABCC2 ABCG2 ABO BAX BCR CAST CD46 CD79B CD86 CFB CREBBP CSF3 CSPG4 CYP1A1 CYP3A5 DPYD ENG EZH2 F3 FAS FGA FLT3 GNB1 GPI GPX1 HDAC1 HDAC2 HDAC4 HFE HK1 HLA-DQA1 HLA-DQB1 IFNG IKZF1 IL10 IRF4 KDM2B KDM3B KDM6A KMT2A KRAS MEFV MTR MYC NBN NOS3 NOTCH3 NRAS NUP214 PON1 PTEN SNRPE TERT TYMS XRCC1	10320 1244 1387 1440 1464 1543 1577 1806 2022 2146 2152 2243 2322 2782 28 2821 2876 3065 3066 3077 3098 3117 3119 3458 355 3586 3662 3845 4179 4210 4297 4548 4609 4683 4846 4854 4893 51780 5243 5444 5728 581 613 629 6635 7015 7298 7403 7515 8021 831 84678 942 9429 974 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABCB1 ABCC2 ABCG2 ABL1 ACE AGT AKT1 BCR CASP6 CD36 CD40 CDKN1B CRKL CYP1A1 CYP3A5 DNMT1 E2F1 EZH2 FAS FASLG FCGR2A FGFR3 GPX1 HES1 HLA-DQA1 HLA-DQB1 IL10 IL1RN MDM2 NCSTN PECAM1 SIPA1 SMAD4 STAT5A TERT TGFB1 USP15 VEGFA XRCC1	1027 1244 1399 1543 1577 1636 1786 183 1869 207 2146 2212 2261 23385 25 2876 3117 3119 3280 355 3557 356 3586 4089 4193 5175 5243 613 6494 6776 7015 7040 7422 7515 839 9429 948 958 9958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ABCB1 ABCC2 ABCC3 ABCG5 ABCG8 ACACA ACACB ACADM ACADVL ACO1 ACTB ADAMTS13 ADIPOQ ADRB3 AHCY AKT1 ALDH2 APOE ATP5F1A AZGP1 CCL2 CCL5 CCR2 CD163 COL1A1 CYP2E1 DGAT2 EZH2 FASN FOXO1 FTO G6PD GPAM HADHA HFE HMGCR HP HPR IFNA2 IGF1R IGFBP7 IL10 IL13 IL1RN IL6 INSR IRS1 IRS2 KRT18 LEP LEPR LPL MLXIPL MLYCD NAMPT NFE2L2 PKLR PLA2G7 PLIN1 PLIN2 PLIN3 PLIN5 PNPLA3 PON2 PPARGC1A PPARGC1B PPDPF RARRES2 SAMM50 SCD SERPINE1 SIDT2 SIRT1 SIRT2 SIRT3 SIRT4 SIRT6 SLC7A3 SOD2 SREBF1 STAT3 TFRC TG TLR4 TLR9 TNF UBR1 UCP2	10135 10226 10891 11093 123 1244 1277 133522 155 1571 191 197131 207 2146 217 2194 22933 2308 23409 23410 23411 23417 2539 25813 3030 3077 31 3156 32 3240 3250 34 3440 348 3480 3490 3557 3569 3586 3596 3643 3667 37 3875 3952 3953 4023 440503 4780 48 498 5054 51085 51092 51548 5243 5313 5346 54106 5445 563 57678 5919 60 6319 6347 6352 64240 64241 6648 6720 6774 7037 7038 7099 7124 729230 7351 79068 79144 7941 80339 84649 84889 8660 8714 9332 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2 Aliases: ARMD2	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	ABCA4 PRPH2	24 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	ABCA4 ELOVL4	24 6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ABCA4 BARD1 BAX BDNF C3 CARD9 CFB CFH CLU CS DMD EYS FCGR1A HDAC4 HGF INHBA KCNH8 LCN2 MERTK NOS3 OTX1 OTX2 PARK7 PDE6B PDHA1 PDHA2 PKD2 PLCB4 PROM1 PROM2 PRPH2 PTPRC RAB6A SERPINF1 SH3RF1 TFPI2 VDAC1 VDAC2 VDAC3	10461 11315 1191 131096 1431 150696 1756 2209 24 3075 3082 346007 3624 3934 4846 5013 5015 5158 5160 5161 5176 5311 5332 57630 5788 580 581 5870 5961 627 629 64170 718 7416 7417 7419 7980 8842 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ABCA4 APOE BAD BAX BMP4 C2 C3 CCL2 CCR2 CD36 CDKN1B CFB CFH CFI CRYAB EFEMP1 ELN ERCC6 ESR1 FAS HSPA8 IL17A KDR MMP2 MMP9 NFE2L2 PON1 PPARGC1A PRPH2 SERPINE1 SERPINF1 SERPING1 SIRT1 SOD1 SRSF10 TLR4 TRA2B	1027 10772 10891 1410 2006 2074 2099 2202 23411 24 3075 3312 3426 348 355 3605 3791 4313 4318 4780 5054 5176 5444 572 581 5961 629 6347 6434 652 6647 7099 710 717 718 729230 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 ADGRV1 AIFM1 BCAN CA4 CAT CC2D2A CLRN1 CNGA1 CNGB1 CRB1 CRB2 CWC27 EDN1 EPG5 EYS FDXR FGFR2 GRIN2B GUCY2D HGF HK1 HKDC1 IMPG1 KL MFRP MT1E MT1H MT2A NGF PDE6B POC5 POMGNT1 PRPF3 PRPF4 PRPF8 PRPH2 PRPS1 PTEN RGR RHO RLBP1 SERPINF1 SLC6A6 SNRNP200 SOD1 USH2A VEGFA	10283 10594 1258 1259 134359 1906 2232 2263 23020 23418 24 286204 2904 3000 3082 3098 346007 3617 4493 4496 4502 4803 5158 5176 55624 5631 5728 57545 57724 5961 5995 6010 6017 63827 6533 6647 7399 7401 7422 762 80201 83552 84059 847 9128 9129 9131 9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	ABCA3 CSF2 CSF2RA CSF2RB DEFB1 MARS1 SFTPA1 SFTPB SFTPC SFTPD	1437 1438 1439 1672 21 4141 6439 6440 6441 653509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	ABCA3 ARHGAP32 ASH1L AVPR1B BAIAP2 BCL11A BDNF BORCS8-MEF2B BRINP1 CADM2 CAMK2A CASK CFL1 CHD1 CHD2 CHD6 CHD7 CHD8 CHD9 CHRNB2 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 COMT CREB1 CREBBP CSDE1 CTNNB1 CTNND1 CTNND2 CUL3 CYFIP1 DLGAP4 DSCAM DSCAML1 DYRK1A EIF4B EIF4E ELP2 EN2 EXT1 FMR1 FOXP2 FXR1 FXR2 GABRB3 GAD1 GAD2 GRIN1 HTR2A HTR2B HTR2C IHH ITGA4 ITPR3 KDM5B KMT5B KMT5C LAMC1 LAMC2 LAMC3 LRBA LRFN2 MAOA MBD5 MBD6 MEF2A MEF2B MEF2C MEF2D MET MMP9 MOCOS NAA15 NAA16 NBEA NDST1 NDST2 NDST3 NDST4 NLGN1 NLGN2 NLGN3 NLGN4X NLGN4Y NR3C2 NRCAM NRP2 NRXN1 NRXN2 NRXN3 OPRL1 OPRM1 PAK2 PDGFRB PIANP PKP2 PKP4 POGZ PREX1 PRICKLE1 PTEN RIMS1 RIMS2 SCAMP1 SCAMP2 SCN1A SCN2A SHANK1 SHANK2 SHH SLC25A12 SLC6A2 SLC6A3 SLC6A4 SLC7A5 SLC9A9 SRSF11 SSBP2 SSBP3 SSBP4 SYN1 SYN2 SYN3 SYNGAP1 TAOK1 TAOK2 TBR1 TCF20 TMPRSS9 TPH1 TRPC4 TRPC5 TSC1 TSC2 TSHZ3 UBE3A VRK3 WDFY3 WDR75 ZNF280B ZNF280D	100271849 10066 10319 10458 10716 1072 10765 1105 1106 1141 114785 129684 1312 1385 1387 140883 144165 1499 1500 1501 1620 170463 1826 1859 196500 1975 1977 2020 21 2131 22829 22839 22871 22941 22999 23001 23126 23191 2332 23635 23648 253559 2562 2571 2572 26047 26960 285195 2902 3340 3356 3357 3358 3549 360200 3676 3710 3915 3918 4128 4205 4207 4208 4209 4233 4306 4318 4897 4987 4988 5062 50944 51111 51231 5159 5318 53335 54413 54816 55034 55250 553 55636 55777 55870 5728 57453 57497 57502 57551 57555 57580 57616 57680 627 6323 6326 64579 6469 6530 6531 6532 6853 6854 6942 7166 7223 7224 7248 7249 728577 7337 7812 79612 79937 80155 80205 8087 8140 815 8224 84128 84181 8452 84787 8502 8506 8509 85445 8573 8604 8828 8831 9295 9344 9348 9369 9378 9379 93986 9513 9522 9699 9743 987	Homo sapiens (human)	Alliance of Genome Resources

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