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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 **3176 - 3200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	GMPPA SGPL1	29926 8879	Homo sapiens (human)	DisGeNET
DOID:7587	supraglottis squamous cell carcinoma Aliases: Epidermoid carcinoma of the Supraglottis	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:3225	tracheal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)	DisGeNET
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)	DisGeNET
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	PLA2G1B PLB1	151056 5319	Homo sapiens (human)	DisGeNET
DOID:2568	cervicitis	LGALS3 MSLN	10232 3958	Homo sapiens (human)	DisGeNET
DOID:0111112	nephronophthisis 1 Aliases: NPH1 NPHP1 juvenile nephronophthisis 1	ACE MLYCD STS UMOD	1636 23417 412 7369	Homo sapiens (human)	DisGeNET
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	ABAT ACAT1 ACHE ALG1 ALPL B3GALNT2 CAT CHAT CNTN2 CYP11A1 DAG1 ENO2 GAD1 GAD2 IDH2 IMPA1 LMAN2L MAN1B1 MBOAT7 ME1 NDST1 NGLY1 PGAP1 PIGC PIGM PLCB1 PNPLA6 PTEN PTGS2 SLC33A1 SMUG1 ST3GAL3 STT3A TECR TMTC3 TUSC3	10908 1103 11253 148789 1583 160418 1605 18 2026 23236 23583 249 2571 2572 3340 3418 3612 3703 38 4199 43 5279 55768 56052 5728 5743 6487 6900 79143 7991 80055 81562 847 9197 93183 9524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	Homo sapiens (human)	DisGeNET
DOID:3093	nervous system cancer Aliases: malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system	ENO2 IDH1 L2HGDH MUTYH NEU1 PTEN	2026 3417 4595 4758 5728 79944	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060239	Van der Woude syndrome	CNTN2 CPO CYP2E1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRKAA2 PTGS2 UMOD	130749 1571 5290 5291 5293 5294 5315 5563 5743 6900 7369	Homo sapiens (human)	DisGeNET
DOID:345	uterine disease	AKR1C2 CYP19A1 HSD17B1	1588 1646 3292	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110729	neuronal ceroid lipofuscinosis 6A Aliases: CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SMPD1	1203 22901 2571 2572 3956 47 5310 5538 5660 6609 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12549	hepatitis A Aliases: Viral hepatitis, type A	ACE ACOT7 AKR1D1 ALDH2 CALR CAT CD1D COLGALT2 CYP19A1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DLAT ECHS1 EXT1 FUT8 G6PD GOLPH3 GPC3 HAS1 HAS3 HPGDS KLRB1 KLRC1 KLRK1 LGALS1 LGALS3 LGALS9 MICA MRC1 NAMPT NCAM1 OGG1 PARP1 PARP2 PTGES PTGS2 SGMS1 SLC17A5 TIPARP TNF UGT1A1 UMOD	10038 100507436 10135 11332 142 1555 1557 1559 1571 1588 1593 1636 1737 1892 2131 217 22914 23127 2530 2539 259230 25976 26503 2719 27306 3036 3038 3820 3821 3956 3958 3965 4360 4684 4968 54658 5743 64083 6718 7124 7369 811 847 912 9536	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	ABO ACACA ACAN ACE ACHE ACOT4 ACOT7 ACOX1 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADPRS AGXT AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG1 ALOX12 ALOX5 AMACR APRT ARSA ATP6AP2 BCKDHA CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CHAT CHI3L1 CHIT1 CLEC16A CLEC1B COMT CSPG4 CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP24A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4A11 CYP4F2 DCN DHCR24 DLD EBP EFNA5 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FADS1 FADS2 FCGR3B FCN1 FCN2 FUT1 G6PD GAL3ST1 GALNT2 GALNT3 GBE1 GFRA1 GGT1 GLA GLCE GLO1 GLUL GPI GPX1 GPX3 HACD1 HADHA HJV HK2 HPGDS HPSE2 HPSE HSD11B2 HSPG2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RL1 IMPA1 IMPA2 INPP5D INPP5K INPPL1 ISYNA1 ITPK1 KL LCAT LDHC LGALS1 LGALS2 LGALS3 LGALS9 LIPC LPL LTA4H LTC4S MAG MAN2B2 MASP1 MASP2 MBL2 ME1 MGLL MMUT MRC1 MTAP NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NT5E NTNG1 OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1L3 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCG1 PLPP3 PRG3 PRKAA2 PRNP PRSS21 PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RENBP RGMB RTN4R SACM1L SCD SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPD SHMT1 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK2 ST3GAL4 ST8SIA4 STS SULT1E1 TBXAS1 TIGAR TM7SF2 TMED9 TNKS UGCG UGT1A1 UGT2B4 UMOD UNG VCAM1 VCAN XYLB XYLT1 XYLT2	1012 10135 10159 10327 10394 1048 10559 10682 10747 10855 10858 1087 10942 1103 1116 1118 11332 11343 120227 122970 125 126 1312 142 1462 1464 148738 1543 1555 1557 1558 1559 1571 1573 1576 1577 1579 1584 1585 1588 1591 1634 1636 1718 1738 176 189 1946 2023 2026 2053 217 2215 2219 2220 22854 22908 22933 231 23274 23324 23583 23600 23659 239 240 2523 2539 2590 2591 26035 2632 26503 2674 2678 27036 27163 2717 27306 2739 2752 28 2821 285704 2876 2878 3030 3099 31 3291 3339 3383 3423 342372 353 3554 3612 3613 3635 3636 3705 3931 3948 3956 3957 3958 3965 3990 3992 4023 4048 4056 4099 410 412 4153 4199 43 4360 4507 4594 4684 4706 4907 4968 4973 501 5091 51 51266 5130 51477 51548 5167 5168 51763 5209 5287 5290 5291 5293 5294 5315 5319 5320 5321 5335 54187 54658 54732 54936 5563 55902 56052 5621 5648 56848 57103 5728 5740 5742 5743 593 5973 60495 6296 6319 6382 6385 6401 6402 6403 64116 64131 64132 6441 6470 6484 65078 6523 653509 6609 6646 6783 6916 7108 7357 7363 7369 7374 7412 7903 7941 79661 81031 811 81890 8398 847 8482 8529 8613 8658 8807 8809 9173 9197 9200 929 9365 9415 9514 952 9536 960 972 98 9942	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ABO ACACA ACADM ACADSB ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADH5 ADIPOQ ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARF4 ARSA ARSD ARSF ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BAD BDH1 BDH2 BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHI3L2 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CHSY3 CLEC10A CLEC14A CLEC3A CLEC4G CLGN CNTN1 CNTN3 CNTN4 CNTN6 COG3 COLGALT2 COMT CPM CPT1A CPT1C CPT2 CRLS1 CRYL1 CSGALNACT1 CSPG4 CYB5R3 CYB5R4 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 DCTD DERA DGKA DGKE DGKG DHCR24 DHDDS DHRS11 DLAT DLD DPAGT1 DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FH FIG4 FKTN FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT6 FUT8 G6PC1 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT4 GALNT5 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLA GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPAT3 GPC1 GPC2 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX6 GPX7 GUSB H6PD HACD1 HADHA HADHB HAS1 HAS2 HJV HK1 HK2 HK3 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST2 HS3ST3A1 HS3ST3B1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HSPG2 HYAL1 HYAL2 ICAM1 ICAM5 IDH1 IDH2 IDS IDUA IGF2 IGF2R IL18R1 IL1R1 IL1RAPL1 IL1RAPL2 IMPA1 INPP4B INPP5D INPP5F INPP5J INPP5K INPPL1 ISYNA1 KAT2B KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LEP LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN1A1 MAN2C1 MANEA MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT3 MGAT5 MGLL MICA MMP17 MMP25 MMUT MPG MRC1 MSLN MTAP MTM1 MTMR3 MTMR8 MUTYH NAMPT NANS NCAM1 NDST1 NEIL2 NEU1 NT5E NTHL1 NUDT5 OGA OGDH OGDHL OGG1 OGT OLR1 OPCML OXSM PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB2 PFKFB3 PFKFB4 PFKM PFKP PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PI4K2A PIGS PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G4A PLA2G4C PLA2G6 PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP4 PLPP5 PNLIPRP1 PNP PNPLA2 POFUT1 PPAT PPP1R3A PPP1R3B PPP1R3C PPT1 PRG2 PRKAA1 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB PYGM QTRT1 RECK RENBP RGMA RGMB RGN RPN2 SACM1L SCD5 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SFTPD SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35A4 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SPTLC1 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GAL2 ST6GALNAC1 ST6GALNAC2 ST6GALNAC5 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 SYNJ2 TALDO1 TBXAS1 TDG TECTA TEX101 THEM4 TIGAR TKT TKTL1 TLR2 TLR4 TM7SF2 TMED1 TMED3 TMED5 TMEM199 TMTC3 TMTC4 TNF TNFRSF10C TNKS2 TNKS TP53 TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9 UGT2B15 UGT2B17 UGT2B4 UGT2B7 UGT8 UMOD UMPS UPP1 VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10143 10159 10195 10232 10327 1040 10400 10457 10462 1047 1048 10558 1056 10610 10682 10724 10728 10855 1087 10873 11018 11041 1109 1113 11141 11145 1116 11164 1117 1118 1119 11226 11227 11332 11343 113612 113829 117145 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 154091 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1608 161198 1629 1634 1635 1636 1645 1646 166929 1718 1727 1737 1738 1798 1800 1836 1890 1892 1942 1943 1946 196051 200576 2023 2026 207 2131 2132 2137 217 218 2180 2181 2182 219 2194 220 220074 2203 2215 2218 221914 226 2271 22856 22876 22908 22914 22925 22933 231 23127 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 2528 252969 2530 253782 2538 2539 2572 257202 25796 2583 2588 2597 26033 26035 2619 26279 26280 2651 2653 266722 2673 2674 2683 27036 27087 27124 2717 2719 2720 27255 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 285704 2876 2877 2878 2882 28992 2923 2990 29940 29956 3030 3032 3036 3037 307 308 3098 3099 31 310 3101 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3339 3340 3373 337876 3383 339390 34 340075 3417 3418 3423 3425 347734 3481 3482 353 3554 36 3612 3635 3636 378 3897 39 3906 3939 3945 3948 3952 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4121 4123 414 4153 416 4245 4248 4249 427 43 4326 4350 4360 4507 4534 4594 4595 4680 4684 47 4758 4860 4907 4913 4967 4968 4973 4978 50 501 50515 50614 5067 5091 50999 51071 51084 51144 51167 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5208 5209 5210 5213 5214 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5319 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 5407 54187 54575 54576 54578 54600 54657 54658 54659 54675 5471 54742 54936 54965 54995 5506 5507 55361 5538 55512 5552 5553 55613 5562 5563 55750 55753 55790 55799 55808 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56898 56913 56963 56965 56994 570 57016 57103 57104 57126 5716 572 57214 5728 5730 5740 5742 5743 57452 57818 5834 5837 5973 60495 6185 622 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6441 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6652 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7007 7086 7087 7097 7099 7108 7124 7157 7167 7355 7357 7358 7363 7364 7366 7367 7368 7369 7372 7378 7412 7903 79154 7923 79603 79623 79660 79679 79694 79837 79888 7991 79947 79966 80201 80351 8050 81031 811 8128 81544 81849 81890 821 8277 8309 83539 83548 83639 83666 8394 8396 8398 8399 84002 8434 84513 84620 847 84725 8473 84803 84812 8482 84899 8505 8526 85365 8605 8611 8630 8644 8658 8692 8693 8705 873 8733 874 8794 8809 8821 8850 8871 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9370 9388 94005 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 98 9896 9953 9955 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	PNPLA6	10908	Homo sapiens (human)	DisGeNET
DOID:1415	gyrate atrophy Aliases: Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina	PRKAA2 ST8SIA4	5563 7903	Homo sapiens (human)	DisGeNET
DOID:11503	diabetic autonomic neuropathy	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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