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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 **1476 - 1500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110575	autosomal dominant nonsyndromic deafness 5 Aliases: DFNA5 autosomal dominant deafness 5	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:0110198	Charcot-Marie-Tooth disease recessive intermediate C Aliases: CMTRIC RI-CMT type C RI-CMTC autosomal recessive intermediate Charcot-Marie-Tooth disease type C	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:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	SDHA SDHD SLC39A8	6389 6392 64116	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant deafness 49	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:0060326	myelomeningocele	ABO ACHE ARSA CD38 CHKA COMT FOLR1 FOLR2 GPC5 HK1 ISYNA1 ITPK1 PCYT1A SLC2A1 SLC2A2 SLC2A3 UGCG	1119 1312 2262 2348 2350 28 3098 3705 410 43 5130 51477 6513 6514 6515 7357 952	Homo sapiens (human)
DOID:0080388	nephrotic syndrome type 7 Aliases: Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN immunoglobulin-mediated membranoproliferative glomerulonephritis nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis	DGKE	8526	Homo sapiens (human)
DOID:3948	adrenocortical carcinoma Aliases: Adrenal cortical carcinoma carcinoma of the Adrenal cortex	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)
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)
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:322	myelitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	CD22 CD38 KLRK1	22914 933 952	Homo sapiens (human)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:10590	mild pre-eclampsia	GPX3	2878	Homo sapiens (human)
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	ARSA CD33 CNTN2 FCER2 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG POGLUT1 PTEN SOAT1	2208 3418 410 5290 5291 5293 5294 56983 5728 6646 6900 945	Homo sapiens (human)
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	CHIT1 COMT CYP2B6	1118 1312 1555	Homo sapiens (human)
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	ACE ACSL5 BAAT CAT CD38 CD44 CD74 CDH13 CEACAM5 CHKA CLEC4G COLEC10 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2R1 DCN FASN GALNT14 GAPDH GPC3 HAS1 HAS3 HPGDS HPSE HSD17B7 HYAL3 ICAM1 KLRK1 LGALS1 LGALS3 LYPD5 MICA MMUT MRC1 NAMPT NCAM1 NEIL3 NEU1 NT5E NTHL1 OGG1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD2 PPT1 PRKAA2 PTEN PTGS1 PTGS2 RGMA SC5D SCD SDC1 SIRT2 SIRT6 SMUG1 SOAT1 TEX101 TNKS2 TP53 TYMP UMPS	100507436 1012 10135 1048 10584 10855 1119 120227 1543 1545 1555 1588 1591 1593 1594 1634 1636 1890 2194 22914 22933 23583 2597 2719 27306 283871 284348 3036 3038 3383 339390 3956 3958 4360 4594 4684 4758 4907 4913 4968 51478 51548 51703 5290 5291 5293 5294 5329 5338 55247 5538 5563 56963 570 5728 5742 5743 6309 6319 6382 6646 7157 7372 79623 80351 83639 8372 847 952 960 972	Homo sapiens (human)
DOID:0110745	type 1 diabetes mellitus 6 Aliases: IDDM6 Insulin-Dependent Diabetes Mellitus 6	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ADH7 ELOVL4 ENO2 HSD17B6 LPCAT1 PCYT1A PNPLA6	10908 131 2026 5130 6785 79888 8630	Homo sapiens (human)
DOID:3650	lactic acidosis	ACADM ACADVL ACAT1 AGK AGXT ALDH6A1 ALDH7A1 ALDOB AMT BCKDHA BCKDHB CHAT CYP11A1 CYP11B2 CYP27B1 DBT DLAT DLD ECHS1 FBP1 FH G6PC1 GALT GCDH GLYCTK HADH HADHA HADHB HIBCH HMGCL HSD3B2 ICAM1 LCT MCEE MLYCD OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PTGS1 PYGL SDHA SLC2A2 SLC37A4 SLC3A1 SLC5A1 SUCLA2 SUCLG1	1103 132158 1583 1585 1594 1629 1737 1738 189 1892 2203 2271 229 23417 2538 2542 2592 26275 2639 275 3030 3032 3033 3155 3284 3383 34 37 38 3938 4329 4967 501 5091 5095 5096 5105 5160 5162 55750 5742 5836 593 594 6389 6514 6519 6523 8050 84693 8802 8803	Homo sapiens (human)
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	PTEN	5728	Homo sapiens (human)
DOID:1802	mononeuritis	SDHD	6392	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)

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