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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 **3426 - 3450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1059	intellectual disability	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CHKB CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K IRS2 KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NDST2 NDST3 NDST4 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 1120 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 64579 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 8509 85365 8660 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9348 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	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)
DOID:14227	azoospermia	ALPI ALPP ART3 CACNA2D1 CAT CD44 CYP19A1 DPY19L2 ELOVL6 FUT1 HJV HPGDS ISYNA1 MICA NDST1 NDST2 NDST3 NDST4 OCRL PARP2 PDHA2 PGD PGK2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCH2 SCP2 SRD5A2 STS TEX101	10038 100507436 148738 1588 248 250 2523 27306 283417 3340 412 419 4952 51477 5161 5226 5232 5290 5291 5293 5294 5310 6342 64579 6716 781 79071 83639 847 8509 9348 960 9651	Homo sapiens (human)
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:1588	thrombocytopenia	ABO ACHE ADH1B ALG8 ASGR1 BAAT C1GALT1 CAT CD209 CD44 CD72 CEACAM5 CLEC1B COG1 COG4 COG6 COMT CYP2C8 CYP3A4 DGKE EFNA5 ELOVL4 EOGT FCGR3B G6PC3 GALE GBA1 GGT1 GNE HPSE HSPG2 KDSR MBD4 MBL2 MMUT MPI MRC1 MYORG NAAA NCAM1 OCRL PCCA PCCB PIK3C2A PIK3CA PIK3CB PIK3CD PMM2 PNLIP PSAP PTEN PTGS1 PTGS2 SC5D SELP SLC17A5 SLC35A1 SOAT1 SPHK2 STT3B TALDO1 TBXAS1 TNF UGT1A1 XYLT2	10020 1048 10559 10855 125 1312 1558 1576 1946 201595 2215 2531 2582 25839 2629 26503 2678 27163 28 285203 30835 3339 4153 43 432 4351 4360 4594 4684 4952 5095 5096 51266 5286 5290 5291 5293 5373 5406 54658 5660 56848 56913 570 5728 5742 5743 57462 57511 6309 6403 64132 6646 6785 6888 6916 7124 79053 847 8526 8930 92579 9382 960 971	Homo sapiens (human)
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	Homo sapiens (human)
DOID:12132	granulomatosis with polyangiitis Aliases: Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)
DOID:11396	pulmonary edema	ACE ALOX5 CAT CYP11B2 SFTPA1 SGMS1 TNF	1585 1636 240 259230 653509 7124 847	Homo sapiens (human)
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	CYP19A1 DCN HTR2A PTEN PTGS2	1588 1634 3356 5728 5743	Homo sapiens (human)
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	ACE ALPP ATRNL1 CAT CHI3L1 CYP2B6 DAG1 DGCR2 FASN GAD2 GCK HAS2 HSPG2 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PLCB1 PRKAA2 PRNP SELE SELP SI SIRT6 SLC2A4 SLC35G1 ST8SIA4 UGT8	1116 1555 159371 1605 1636 2194 23236 250 2572 26033 2645 283871 3037 3339 4023 4360 4534 51548 5226 5563 5621 6401 6403 6476 6517 7368 7903 847 8776 8972 9993	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:8533	hypopharynx cancer Aliases: Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx	ACACB ADH1B AKR1A1 ALDH2 CALR CD44 CYP1A1 GAPDH SMUG1	10327 125 1543 217 23583 2597 32 811 960	Homo sapiens (human)
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	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)
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)
DOID:5825	adult lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALOX15 ALPI ALPP ANXA5 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP2B6 DGKZ ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HPSE HS3ST2 HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MBL2 MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIGK PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SELE SGPP1 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C ULBP1 VCAM1 VTCN1	10026 10462 1056 10855 10998 1113 1312 1543 1555 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 246 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4153 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 6401 65078 6515 6646 6783 6900 7355 7412 7957 79679 80329 811 81537 83666 847 8525 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972 9956	Homo sapiens (human)
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:6869	parasagittal meningioma	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)
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	ACAN ACER3 AGA AGL ALDH3A2 ALDOA ALOX12B ALPL ALPP ARSB ASAH1 ATP6V0A2 ATP6V1A ATRNL1 B3GALT6 B3GAT3 B4GALT7 CD38 CERS3 CHST3 CHSY1 COG4 COG5 COG7 COL9A2 COLEC10 COMT CRYL1 CSGALNACT1 CTNS CTSA CYP11B1 CYP17A1 CYP19A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 DCN DDOST DGCR2 DHCR24 DHCR7 DHDDS EBP EHHADH ENPP1 EXT1 EXT2 FIG4 FUCA1 FUT8 G6PC1 GALNS GALNT2 GAPDH GAS1 GBA1 GCK GFPT1 GK GLA GLB1 GM2A GMPPA GNPTAB GNPTG GPC3 GPD1 GUSB GYS2 H6PD HACD1 HPRT1 HSD11B2 HSD17B4 HSPG2 HYAL1 IDH1 IDH2 IDS IDUA INPP5K INPPL1 KDSR L1CAM LARGE1 LFNG MGAT2 MLYCD MSMO1 NEU1 OCRL OGDH PAPSS2 PCCA PCCB PCYT1A PGAP1 PGM1 PGM3 PIK3C2A PIK3CA PLCG1 PNPLA2 PNPLA6 PRPS1 PTDSS1 PTEN PYGL RFT1 SDHA SDHB SDHC SDHD SIRT6 SLC26A2 SLC2A2 SLC35A2 SLC35C1 SLC37A4 SLC39A8 SMC3 SMPD1 SMPD3 SOAT1 STS SUCLA2 SULT1E1 SULT2B1 SUMF1 SYNJ1 TGDS TMEM165 UGDH VCAM1 XYLT1	10466 10584 10682 10908 11285 120227 126792 1298 1312 1497 1555 1557 1559 1584 1586 1588 1594 1634 1650 1717 1718 175 176 178 1836 1962 204219 2131 2132 224 226 22856 23417 23483 23545 242 249 250 2517 2530 2531 2538 2542 25839 2588 2590 2597 26033 2619 26229 2629 2645 2673 2710 2717 2719 2720 2760 2819 285362 2990 29926 2998 3251 3291 3295 3339 3373 3417 3418 3423 3425 3636 3897 3955 411 412 4247 427 4758 4952 4967 5095 5096 51084 5130 51548 5167 51763 523 5236 5238 5286 5290 5335 5476 55331 55343 55512 55790 55858 5631 57104 5728 5836 6307 6389 6390 6391 6392 64116 64131 6514 6609 6646 6783 6820 7355 7358 7412 79158 79947 80055 84572 8803 8867 9060 9126 91869 91949 9200 9215 9469 952 9563 9791 9896 9993	Homo sapiens (human)
DOID:8791	breast carcinoma in situ Aliases: Non-Infiltrating carcinoma of breast carcinoma in situ of breast	AKR1B1 IGF2R	231 3482	Homo sapiens (human)
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	ABO ACACA ACAT1 ACE ACHE ACLY ACO1 ACO2 ACOT7 ACOX3 ACSL3 ACSL4 ACSM3 ACSS2 ADH1C ADH5 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1A3 ALDH1B1 ALDH3A1 ALDH7A1 ALOX12 ALOX12B ALOX15 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APRT ARSB ARSF ARSG ASAH1 ATF4 ATP6AP2 ATRNL1 B3GAT1 B3GNT2 B3GNT6 B4GALT4 BAAT BAD BST1 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CCDC115 CD109 CD14 CD177 CD1D CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CERS2 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST14 CLEC10A CLGN CMAS CNTN1 COMT CPT1A CPT2 CRYBG1 CRYL1 CTBS CYB5R2 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP2R1 CYP39A1 CYP3A4 CYP3A5 CYP4F3 CYP4F8 CYP7B1 DAG1 DCN DCXR DDOST DEGS1 DGAT1 DGAT2 DGKK DGKZ DHCR24 DHDDS DHDH DHRS11 DLD DLST DPEP1 ECI2 EDEM3 EFNA2 EFNA5 EHHADH ELOVL3 ELOVL5 ELOVL7 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FASN FBP1 FBXO44 FCN2 FDFT1 FDPS FH FMOD FUT1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 G6PD GAD1 GAD2 GAL3ST2 GALNS GALNT3 GALNT4 GAPDH GCK GCNT1 GFRA1 GGT1 GLB1 GLCE GLDC GLO1 GLUL GOLPH3 GPC1 GPC3 GPC5 GPLD1 GPNMB GPX1 GPX2 GPX3 GRHPR GUSB HACD1 HADHA HADHB HAGH HAO1 HAS3 HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD17B12 HSD17B1 HSD17B2 HSD17B3 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HSPG2 HYAL1 ICAM1 ICAM5 IDH1 IDH2 IGF2R INPP4B ISYNA1 KL KLB KLRB1 KLRG2 KLRK1 L1CAM LARGE2 LCT LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LGALS8 LIPA LPCAT1 LPCAT2 LPIN1 LPIN2 LPL LTA4H LYPD5 LYPLA1 M6PR MAG MAN2A1 MAN2C1 MASP1 MBL2 MCAT MDH2 MGAT1 MGAT4C MGAT5 MGLL MICA MRC1 MTAP MUTYH NAAA NAGK NAGLU NANS NCAM1 NDST2 NDST4 NEU1 NEU2 NEU3 NPL NT5E OGG1 OLR1 OPCML PARP1 PARP2 PARP9 PCK2 PCYT1A PCYT1B PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAM2 PGK1 PI4KA PIGP PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLA2R1 PLAAT3 PLAUR PLB1 PLCG1 PLD1 PLD2 PLPP4 PNP PNPLA2 PPP1R3A PPT1 PRG2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RECK RENBP RGMA RGMB RGN RPN2 SARM1 SCD SDC1 SDHC SELE SFTPA2 SFTPD SHMT1 SHMT2 SIGLEC12 SIGLEC1 SIGLEC7 SIRT2 SIRT6 SLC2A12 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B4 SLC35G1 SLC3A1 SMC3 SMPD1 SMUG1 SOAT1 SORD SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRD5A3 ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC3 ST8SIA4 STS SUCLG2 SULF2 SULT1E1 SULT2B1 TBXAS1 TKTL1 TM7SF2 TMED3 TMED9 TNFRSF10C TNKS TUSC3 TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B10 UGT2B11 UGT2B15 UGT2B17 UGT2B28 UGT8 UMPS UNG VCAM1 VCAN XPNPEP2	10038 100507436 1012 10159 10327 10434 10455 10457 10462 1047 1048 10678 10720 10728 10825 10855 1113 11145 1116 1118 1119 11283 113189 11332 11343 120071 120227 126 1272 128 1312 135228 1374 1376 139189 142 1462 1486 151056 152831 154091 1543 1544 1545 1555 1557 1558 1571 1576 1577 1583 1585 1586 1588 1591 1593 159371 1594 1604 1605 1634 1636 1645 1646 1650 1718 1738 1743 1800 1890 192134 1943 1946 196051 1962 202 2023 2026 2053 208 218 2181 2182 219 2194 220 2203 2220 2222 2224 2262 2271 22901 22914 22925 22933 23098 23175 2331 23423 23583 23600 23659 239 240 242 246 247 248 249 250 2523 2525 2526 2527 2528 2529 2530 2539 256435 2571 2572 25834 2588 2591 2597 26033 26035 2645 2650 2674 2678 27036 27087 27163 2719 2720 27294 27306 2731 27349 2739 2752 28 2817 2822 284348 285704 2876 2877 2878 2923 2990 29956 3029 3030 3032 3038 307 308 3099 31 310 3157 3158 3161 3251 3283 3284 3290 3292 3293 3294 3295 3339 3373 3383 3417 3418 342372 346689 3482 353 38 3820 3897 3938 3939 3945 3948 3956 3958 3960 3964 3988 4023 4048 4051 4074 4099 411 412 4123 4124 4153 416 4191 4245 4249 427 43 4360 4507 4595 4669 468 4680 4684 47 4758 4759 48 4860 4907 4968 4973 4978 50 501 5106 51084 51144 51181 51227 5130 51302 51477 51478 51548 5160 5167 5168 51700 5209 5210 5223 5224 5230 5287 5290 5291 5293 5294 5297 5310 5311 5313 5315 5319 5320 5321 5329 5335 5337 5338 54187 54363 54490 54575 54576 54577 54578 54579 54600 54657 54658 54659 54732 54947 5506 5538 5553 55577 5563 55750 55799 55902 55907 55959 5621 5648 5652 5660 56848 56886 56913 56963 56994 570 57016 57104 57126 5716 572 57214 5728 5730 5742 5743 5973 60481 60495 6185 6296 6319 6382 6391 6401 64083 64090 6441 64579 6470 6472 6480 6482 6487 6515 6517 6518 6519 6609 6614 6646 6652 6677 6713 6715 6716 6783 6820 683 6916 7087 7108 729238 7355 7365 7366 7367 7368 7372 7374 7412 7512 7903 79154 7941 79644 79888 7991 79947 79993 80142 80267 80896 811 821 8277 8310 83401 83666 8394 8398 8399 84317 8434 84649 847 84912 8509 8525 8560 8630 8644 8658 8693 8694 8702 873 8794 8801 8821 8877 89858 9104 912 9126 9197 9200 9254 929 93611 9365 9380 9420 945 9468 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB 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 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)

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