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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 **5376 - 5400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	ACAT1 ACE ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPGDS HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PLCG2 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10724 10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27306 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 4669 51196 5290 5291 5293 5294 5310 5336 5373 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:11503	diabetic autonomic neuropathy	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)
DOID:0110574	autosomal dominant nonsyndromic deafness 4B Aliases: DFNA4B autosomal dominant deafness 4B	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:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ACE AKR1C4 ALPI ALPP CALR CAT CD177 CEACAM5 CEACAM6 CHI3L1 CHIT1 FREM1 G6PD IDH1 IDH2 IL18R1 LDHA LDHB LGALS1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PRG2 SELP SOAT1 STS TBXAS1 TP53	1048 1109 1116 1118 158326 1636 248 250 2539 3417 3418 3939 3945 3956 3958 412 4680 5290 5291 5293 5294 5553 57126 6403 6646 6916 7157 811 847 8809	Homo sapiens (human)
DOID:0050145	adenoiditis Aliases: chronic adenoiditis	FCN2	2220	Homo sapiens (human)
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)
DOID:811	lipodystrophy	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	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:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 TNF	1116 7124	Homo sapiens (human)
DOID:0070172	spermatogenic failure 15 Aliases: SPGF15	CYP2E1	1571	Homo sapiens (human)
DOID:0070323	childhood acute myeloid leukemia Aliases: childhood acute myeloid leukaemia paediatric acute myeloid leukaemia pediatric acute myeloid leukemia	CD33 CD38 CNTFR EBP HPGDS IDH1 IDH2 KLRK1 NCAM1 PAFAH1B1 PLCB4	10682 1271 22914 27306 3417 3418 4684 5048 5332 945 952	Homo sapiens (human)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:12241	beta thalassemia	ACOT7 ANXA5 CAT CD177 CD38 CD55 CHIT1 CHPT1 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 FUT1 FUT4 G6PD H6PD HACD1 HJV HPGDS KL LPCAT3 OGA PC PGD PRKCSH SCD SELP SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10162 10724 1118 11332 1374 1376 148738 1571 1576 1604 2523 2526 2539 27306 308 5091 51084 5226 54575 54576 54577 54578 54579 54600 54657 54658 54659 5589 56886 56994 57126 6319 6403 7124 7355 7358 7372 847 9200 9365 952 9563	Homo sapiens (human)
DOID:0080033	craniometaphyseal dysplasia	ACE CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 1605 1636 2218 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:9120	amyloidosis Aliases: amyloid disease	ACAN ACAT1 ACE ACHE ADIPOQ AGPS AKR1C4 ALOX12 ALOX15 ALOX5 ANXA5 APRT ARSA CAT CD109 CD14 CD33 CD38 CD55 CD74 CHAT CHI3L1 CHIT1 CHST6 CLEC7A CYP46A1 DCN DEGS1 DGCR2 DPEP1 EHHADH FCN2 G6PD GALNS GAPDH GOT1 GPNMB GPX1 HSD11B1 HSPG2 LYZ MAG MBL2 MICA NAGLU NCAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PLD3 PRNP PTGS1 PTGS2 SCD SDC1 SFTPA1 SLC2A12 SMUG1 SOAT1 STS SUCLA2 TNF VCAM1	100507436 10457 10858 1103 1109 1116 1118 135228 142 154091 1604 1634 1636 176 1800 1962 2220 23583 23646 239 240 246 2539 2588 2597 2805 2876 308 3290 3339 353 38 4069 4099 410 412 4153 4166 43 4669 4684 5290 5291 5293 5294 5321 5621 5742 5743 6319 6382 64581 653509 6646 7124 7412 7941 847 8540 8560 8803 929 9370 945 952 972 9993	Homo sapiens (human)
DOID:5870	eosinophilic pneumonia Aliases: Pneumonia, eosinophilic	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)
DOID:1555	urticaria	ACE AGXT ALDH3A2 ALOX5 ARSA BST2 CAT CD38 DGKG ELOVL4 FCGR3B GPX1 HPGDS ICAM1 LTC4S PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCG1 PLCG2 PTGS2 SDHB SDHC SELE VCAM1	1608 1636 189 2215 224 240 27306 2876 3383 4056 410 51604 5290 5291 5293 5294 5321 5335 5336 5743 6390 6391 6401 6785 684 7412 847 952	Homo sapiens (human)

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