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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4051 - 4075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:11201	parathyroid gland disease Aliases: disease of parathyroid glands	AMY1A AMY1B AMY1C APRT CAT CYP19A1 HPGDS KL L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847 9365	Homo sapiens (human)
DOID:1400	lacrimal apparatus disease	ARSD	414	Homo sapiens (human)
DOID:2275	pharyngitis Aliases: Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat	CYP2C19 GALNS PTGS2 UGCG	1557 2588 5743 7357	Homo sapiens (human)
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AMY1A AMY1B AMY1C CD14 PTGS1 PTGS2	276 277 278 5742 5743 929	Homo sapiens (human)
DOID:0110560	autosomal dominant nonsyndromic deafness 30 Aliases: DFNA30 autosomal dominant deafness 30	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:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABO ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD72 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CERS6 CHI3L1 CHST9 CLEC12A CNTFR COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 EBP EFNA5 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GAPDH GGT1 GML GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE2 HPSE HS3ST4 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1RL1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LIPA LPL LSS MBL2 MOGS MTAP NAAA NAMPT NCAM1 NT5E PARP9 PGP PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PLCG2 PNP PNPLA3 PRKAA2 PRPS1 PTEN PTGS2 SACM1L SCD SELE SFTPD SHMT1 SLC27A5 SMUG1 SOAT1 SPHK2 ST8SIA6 UGT1A1 UMOD UNG	1012 10135 1048 1056 10584 10682 10855 1087 10998 1116 1271 1464 1543 1544 1545 1555 1557 1558 1571 1576 1577 160364 1604 1946 2026 2131 2271 22908 22914 231 23583 23659 248 250 2526 253782 2539 2571 2597 2678 27087 27163 27306 2765 28 2821 283871 2876 308 3098 3161 3251 3383 338596 3417 3418 3425 353 3635 3956 3958 3988 3992 4023 4047 4051 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 5336 54658 5563 55902 5631 56848 5728 5743 60495 6319 6401 6441 6470 6646 7369 7374 7841 80339 811 83539 83666 847 8644 8809 912 9173 929 933 945 9487 952 960 962 971 9951	Homo sapiens (human)
DOID:7398	cerebral primitive neuroectodermal tumor Aliases: PNET of Cerebrum	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	GANAB PKD1 PKD2	23193 5310 5311	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:7187	subacute lymphocytic thyroiditis	SMUG1	23583	Homo sapiens (human)
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL G6PC1 GAA GBE1 GYS2 PYGL	178 2538 2548 2632 2998 5836	Homo sapiens (human)
DOID:0110442	dilated cardiomyopathy 1Q Aliases: CMD1Q	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:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	ABAT ACE ACHE ALOX5 CAT CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GBA1 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP PTEN SARM1 SIGLEC7 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 18 2131 2132 23098 23583 240 26035 2629 2675 27036 2731 43 4680 54732 5621 5660 5728 6484 8398 847 84750 8803	Homo sapiens (human)
DOID:7926	epithelial malignant thymoma Aliases: Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma	LY75	4065	Homo sapiens (human)
DOID:0050958	spinocerebellar ataxia type 7	ELOVL5 ENPP2 PRNP SPTLC3	5168 55304 5621 60481	Homo sapiens (human)
DOID:0110558	autosomal dominant nonsyndromic deafness 2A Aliases: DFNA2A autosomal dominant deafness 2A	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:936	brain disease Aliases: encephalopathy	ACE ACHE ACSF3 AMACR AMT APRT ARSA ATP6V1A CAT CEL CLN5 COG8 CPT2 CYB5R3 CYP2B6 CYP2R1 CYP46A1 DLD ENO2 FCN2 FDPS FH FUT8 GBA1 GCDH GCSH GLDC GLUL GLYCTK HIBCH HMGCL HPGDS IDH3A IDS LGALS3 MCAT NCAN NTNG1 OGG1 PARP9 PDHX PGAP1 PIGA PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLCB1 POMT1 PPT1 PRNP PTEN PTGES PTGS2 RTN4R SDC2 SDHA SLC27A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SMUG1 SUCLG1 SYNJ1 TM7SF2 UGT1A1 VCAN	10559 1056 10585 10858 10998 120227 1203 132158 1376 1462 1463 1555 1636 1727 1738 197322 2026 2220 2224 2271 22854 23236 23583 23600 2530 26275 2629 2639 2653 27306 2731 27349 275 2752 3155 3419 3423 353 3958 410 43 4968 51604 523 5277 5290 5291 5293 5294 5315 54658 5538 5621 5728 5743 6383 6389 65078 6515 7108 7355 80055 8050 83666 8398 84342 847 8802 8867 9197 9536	Homo sapiens (human)
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	CALR CEACAM5 CEACAM7 CYP19A1	1048 1087 1588 811	Homo sapiens (human)
DOID:0060815	Miles-Carpenter syndrome Aliases: MCS MRXS4 X-linked intellectual disability, Miles-Carpenter type mental retardation, X-linked, syndromic 4 mental retardation, X-linked, with congenital contractures and low fingertip arches	CAT	847	Homo sapiens (human)

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