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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 **5126 - 5150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	ABO ACACA ACADL ACADS ACAT1 ACE ACHE ACLY ACSBG1 ACSM3 ACSS2 AGXT AKR1B1 ALDH2 ALDOB AMACR ANXA5 APRT ARSA ATP6AP2 B3GAT1 CAT CBR1 CD14 CD177 CD248 CD55 CDH13 CERS2 CERS4 CHGA CHI3L1 CLEC16A CMAS CNTN3 COL9A2 COMT CPT1A CPT2 CYP11B2 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 CYP3A5 DDOST DGAT1 DGAT2 DHCR24 DPEP1 ENO1 ENPP1 EPHX2 EXTL2 FADS1 FADS2 FAR2 FASN FCGR3B G6PC1 GAD1 GALNT3 GFPT2 GGT1 GLA GLB1 GPX1 GPX3 GRHPR HJV HOGA1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IGF2R KL LCAT LEPR LGALS3 LIPC LPIN1 LPL MANBA MBL2 MBOAT7 MICA MPI MTM1 NAGLU NAMPT OCRL OGA OGG1 OLR1 PARP1 PCYT1A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKD1 PKD2 PLA2G10 PLA2G15 PLA2G2A PLA2R1 PLB1 PLCE1 PLD1 PLD2 PNPLA3 PRKAA2 PRNP PTGDS PTGES PTGS1 PTGS2 RBP4 RENBP RGMA RPN1 SDC1 SELE SELL SELP SFTPA1 SHMT1 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC3A1 SMPD3 SMUG1 SPHK2 ST8SIA4 STS TALDO1 TKT UMOD VCAM1 VCAN VNN1 XYLT2	100507436 1012 10135 10159 10724 10855 1113 1116 112817 1298 1312 1374 1376 142 1462 148738 151056 1543 1544 1555 1557 1558 1559 1576 1577 1585 1591 1594 1604 1636 1650 1718 1800 189 2023 2053 2135 217 2194 2215 229 22925 231 23175 23205 23274 23583 23600 23659 2538 2571 2591 26503 2678 27087 2717 2720 27306 28 2876 2878 29956 308 31 3290 3291 33 3383 3482 35 353 38 3931 3953 3958 3990 3992 4023 410 412 4126 4153 43 4351 4534 4669 47 4952 4968 4973 5067 51196 5130 51548 5167 5289 5290 5291 5293 5294 5310 5311 5320 5337 5338 55512 5563 55711 55902 55907 5621 56848 56963 57124 57126 5730 5742 5743 5950 5973 6184 6296 6382 6401 6402 6403 64132 6470 6517 6519 653509 6888 7086 7369 7412 7903 79143 79603 80339 8395 8399 84649 847 8694 873 8876 9197 929 9365 9380 9415 9536 9945	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)	DisGeNET
DOID:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	CD38 CD44 CEACAM5 CHSY1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RECK SMUG1 SOAT1	10038 1048 142 1634 22856 23583 2539 3161 3554 3956 4684 5290 5291 5293 5294 5728 6646 8434 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	DCN ENPP1 LSS	1634 4047 5167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5304	ovarian clear cell adenocarcinoma	ANXA4 NEU3 PIK3CA	10825 307 5290	Homo sapiens (human)	DisGeNET
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:7033	anisakiasis Aliases: Infection by Anisakis larva	SIGLEC8	27181	Homo sapiens (human)	DisGeNET
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	ACE AKR1A1 CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 LRP5 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNPLA2 PSMD10 SORD TM7SF2 TMED5	10327 10855 1636 2053 2220 27349 3383 3956 4041 50999 5290 5291 5293 5294 57104 5716 6652 7108 7941 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:12399	pathological gambling Aliases: Compulsive gambling	CHPT1 COMT DHDDS HTR2A	1312 3356 56994 79947	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8826	colon carcinoma in situ Aliases: carcinoma in situ of colon stage 0 Colonic carcinoma	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	NCAM1 SFTPD TNF	4684 6441 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	FASN GNPTAB HACD1 IL18R1 PIK3CA PIK3CB PIK3CD PIK3CG	2194 5290 5291 5293 5294 79158 8809 9200	Homo sapiens (human)	DisGeNET
DOID:13272	Klebsiella pneumonia Aliases: Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder)	CD44 GPX1 MBL2	2876 4153 960	Homo sapiens (human)	DisGeNET
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	ADIPOQ FCN2 ICAM1 NTM RGMA STS TNF	2220 3383 412 50863 56963 7124 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	ALG6 IGF2 MPI OGA PMM1 PMM2	10724 29929 3481 4351 5372 5373	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	CAT COMT LGALS3 NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG TLR2	1312 3958 4913 5290 5291 5293 5294 7097 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)	DisGeNET
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)	DisGeNET
DOID:0111157	Castleman disease Aliases: angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma	CD48 FUT4 MLYCD SMUG1	23417 23583 2526 962	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110439	dilated cardiomyopathy 1P Aliases: CMD1P	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)	DisGeNET
DOID:5403	microcystic adenoma	ACACA ACE ACSL4 ADH1C AKR1B10 AKR1B1 ALDH2 ALOX12 ALOX5 AMACR APRT ARSA BAAT CALR CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHGA CHI3L1 CHPT1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP2C9 CYP2E1 CYP3A5 DHCR24 DLD DPEP1 ENO2 ENPP7 FUT4 FUT8 G6PC1 GALNT12 GFRA2 GLUL GPC3 GPNMB GPX1 GPX2 GUSB HPGDS HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HSPG2 IDH1 IGF2R KL LGALS1 LGALS3 LGALS4 LMAN1 LYZ MBD4 MGAT5 MGLL MPG MRC1 MTAP MUTYH NAGLU NAMPT NCAM1 NTHL1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGIS PTGS1 PTGS2 QPRT SDC2 SDHC SELL SHMT1 SLC26A2 SLC2A3 SLC33A1 SMUG1 SORD SPHK1 UGT1A1 UGT1A6 VCAN	1012 10135 10457 1048 10855 1087 1113 1116 11343 126 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1636 1718 1738 1800 1836 2026 217 2182 231 23475 23583 23600 239 240 2526 2530 2538 2675 2719 27306 2752 2876 2877 2990 31 3283 3290 3291 3292 3339 339221 3417 3482 353 3956 3958 3960 3998 4069 410 4249 4350 4360 4507 4595 4669 4680 4684 4913 4968 51478 5290 5291 5293 5294 54578 54658 56994 570 57016 5716 57214 5728 5740 5742 5743 6383 6391 6402 6470 6515 6652 79695 811 8877 8930 9197 9365 9469 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110588	autosomal dominant nonsyndromic deafness 67 Aliases: DFNA67 autosomal dominant deafness 67	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)	DisGeNET

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