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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 **2351 - 2375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	ARSA GLB1 GM2A HEXA HEXB HEXD OGA UGCG	10724 2720 2760 284004 3073 3074 410 7357	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:1307	dementia	ACE ACHE ACOT7 ADH1C ADIPOQ AGPS AKR1C4 ALDH2 ARSA ASAH1 ASAH2 ATP6V0A2 ATP6V1A CD38 CEACAM5 CEACAM7 CERS1 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP19A1 CYP27A1 DHDDS DLD EBP EPHX2 EPM2A G6PD GBA1 GBA2 GBE1 GM2A GNE GPX1 H6PD HEXA HPGDS HSD11B1 ICAM1 IDH1 INPP5D INPP5K KL LIPG LPL NAGLU NDUFAB1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLAUR PLD1 PNPLA6 PRNP PSAP PTGS2 SCD SDHA SDHB SDHD SFTPC SIRT2 SLC17A5 SLC2A3 SLC33A1 SMUG1 SORD SPTLC1 ST3GAL4 SUCLA2 SYNJ1 TGDS TIGAR TPI1 UGCG VCAM1	10020 1048 10558 10682 10715 1087 10908 1103 1109 1116 1118 11332 126 1312 1464 1588 1593 1636 1738 2053 217 22933 23483 23545 23583 2539 2629 2632 26503 27306 2760 2876 3073 3290 3383 3417 3635 4023 410 427 43 4669 4706 5048 51763 523 5290 5291 5293 5294 5329 5337 5621 5660 56624 57103 5743 57704 6319 6389 6390 6392 6440 6484 6515 6652 7167 7357 7412 7941 7957 79947 8540 8803 8867 9197 9365 9370 9388 952 9563	Homo sapiens (human)
DOID:10533	viral pneumonia	ACE CHI3L1	1116 1636	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	ACSL1 DGKA DGKB DGKG DHCR24 G6PC1 GCK HK1 HK2 HK3 HKDC1 IRS2 PIK3CB PIK3CD SLC2A2 TLR4	1606 1607 1608 1718 2180 2538 2645 3098 3099 3101 5291 5293 6514 7099 80201 8660	Homo sapiens (human)
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ABO ACACA ALDH2 CD44 CEACAM5 CHGA CYP2C19 CYP2E1 CYP3A4 DCN GAD1 GLUL GPI L1CAM NAGLU NGLY1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2 TM7SF2 VTCN1	1048 1113 1557 1571 1576 1634 217 2571 2752 28 2821 31 3897 4669 4968 51196 5290 5291 5293 5294 55768 5728 5743 7108 79679 960	Homo sapiens (human)
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	GAD1 GAD2 GLUL HSD17B4 ISYNA1 PLA2G1B PLA2G2A PLA2G6	2571 2572 2752 3295 51477 5319 5320 8398	Homo sapiens (human)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	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:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	HSD3B7	80270	Homo sapiens (human)
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ARSA ASAH1 CHIT1 CYP11A1 GALC GBA1 GLA GLB1 IDUA OGA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A	10724 10924 1118 1583 2581 2629 2717 2720 3425 410 427 5660 6609 6610 8879	Homo sapiens (human)
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:0110496	autosomal recessive nonsyndromic deafness 38 Aliases: DFNB38 autosomal recessive deafness 38	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:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)
DOID:0110485	autosomal recessive nonsyndromic deafness 27 Aliases: DFNB27 autosomal recessive deafness 27	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:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	ABO ACE AKR1C1 AKR1C3 APRT ARSA CALR CAT CD14 CD22 CD33 CD38 CD44 CD55 CERS6 CHKA CNTN2 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 ENO2 FCER2 FCGR3B FUT1 FUT4 HACD1 HPGDS HPRT1 HPSE2 HSD17B1 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5D LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAAA NAMPT NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLCG1 POGLUT1 PRKAA2 PSMD10 PTEN PTGES RENBP SACM1L SCD5 SELE SELL SIGLEC7 SMUG1 SOAT1 ST6GAL1 STS TALDO1 TIGAR TMED5 TMED9 UNG VCAM1 VCAN XYLT2	10135 1119 142 1462 1543 1555 1576 1577 1604 1636 1645 2026 2208 2215 22908 22925 23583 2523 2526 253782 27036 27163 27306 28 3251 3292 3383 3417 3418 3425 353 3635 3938 3956 3958 3965 410 412 4360 4507 4684 4968 50999 51084 5290 5291 5293 5294 5335 54732 5563 56983 57103 5716 5728 5973 60495 6401 6402 64132 6480 6646 6888 6900 7374 7412 79966 811 847 8644 8809 9200 929 933 945 9487 952 9536 960	Homo sapiens (human)
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:715	obsolete T-cell lymphoblastic leukemia/lymphoma	CD209 CD38 CD44 CNTN2 COMT CYP19A1 FCGR3B FUT4 ICAM1 LGALS1 LGALS9 MRC1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN SACM1L SELL SIGLEC7 SOAT1 TALDO1 TMED9 VCAM1	1312 1588 2215 22908 2526 27036 30835 3383 3956 3965 4360 4507 4684 4860 5290 5291 5293 5294 54732 5728 6402 6646 6888 6900 7412 952 960	Homo sapiens (human)

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