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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 **5526 - 5550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)
DOID:0060758	immunodeficiency with hyper-IgM type 2 Aliases: AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2	UNG	7374	Homo sapiens (human)
DOID:2163	nasal cavity disease	ACHE	43	Homo sapiens (human)
DOID:12139	dysthymic disorder Aliases: dysthymia	ACACA ACE ACHE ACOT7 ACOX1 ACSL4 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DHDDS DLD EPM2A FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IMPA2 INPP5K INPPL1 KL LDHA LGALS1 LGALS3 LIPA LMAN2L LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDH2 ME1 MPG MUTYH NANS NCAM1 NDST1 NEIL1 NT5E OCRL OGG1 PAFAH1B1 PARP1 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TUSC3 UGCG VCAM1 XYLT2	1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 125 126 1298 1312 1374 142 1431 1464 148789 151056 1555 1557 1559 1571 1576 1588 1593 159371 1607 1636 1646 166929 1738 217 218 2182 2224 22901 22933 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 2821 283871 2876 307 31 3290 3340 3383 340075 3423 3425 353 3613 3636 3939 3956 3958 3988 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 501 5048 5067 51 51495 51548 51763 5226 5279 5290 5291 5293 5294 5319 5320 5321 54187 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 811 81562 8398 847 8560 8803 9104 9197 9365 9394 952 9524 9896	Homo sapiens (human)
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	AKR1B1 ASAH1 CAT CD38 CD44 CEACAM5 CLEC9A COMT CTSA CYP1A1 CYP2B6 ENPP1 FASN FCGR3B FUT3 GAD1 GAD2 GLB1 GUSB HPRT1 HS3ST1 HS3ST6 ICAM1 LGALS1 LGALS4 LGALS9 MBL2 MRC1 MTMR3 MTMR4 PARG PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS2 SFTPC SMPD1 SOAT1 STT3A SUCLA2 TNKS TREH UNG XYLT2	1048 11181 1312 1543 1555 2194 2215 231 2525 2571 2572 2720 283420 2990 3251 3383 3703 3956 3960 3965 4153 427 4360 4860 5167 5290 5291 5293 5294 5476 5743 64132 6440 64711 6609 6646 7374 847 8505 8658 8803 8897 9110 952 960 9957	Homo sapiens (human)
DOID:5667	sweat gland carcinoma Aliases: carcinoma of the Sweat gland	CEACAM5 SMUG1	1048 23583	Homo sapiens (human)
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)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	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:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	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:2860	hemoglobinopathy Aliases: hemoglobinopathies	ABO ALDOA CD55 FUT1 G6PD GPI HK1 NT5E PKLR SCD TPI1 UGT1A1	1604 226 2523 2539 28 2821 3098 4907 5313 54658 6319 7167	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	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:4267	akinetic mutism Aliases: Coma vigilans	PRNP	5621	Homo sapiens (human)
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	Homo sapiens (human)
DOID:0111058	platelet-type bleeding disorder 12 Aliases: BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency	PTGS1	5742	Homo sapiens (human)
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	CYP11A1 FREM1 GAD2 NT5M PAFAH1B1 PRNP STS	1583 158326 2572 412 5048 5621 56953	Homo sapiens (human)
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	ACSBG1 CD44 FUT4 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4D PTEN PTGS2 SELL SMUG1	23205 23583 2526 283748 3956 4507 4684 5290 5291 5293 5294 5315 5728 5743 6402 960	Homo sapiens (human)
DOID:203	exostosis Aliases: bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis	ACAN ACLY ADH1B APRT B3GALT6 B3GAT1 CD14 CD44 DCN EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 125 126792 1634 176 2131 2132 2137 2331 23583 27087 3339 3417 3418 353 47 5336 5728 5743 8658 929 9365 960	Homo sapiens (human)
DOID:7997	thyrotoxicosis	ABO ACACA ACE ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929	Homo sapiens (human)
DOID:0050167	autoimmune polyendocrine syndrome type 1 Aliases: Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	ADH1A CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B LYZ VCAM1	124 1544 1555 1737 2215 4069 64581 7412 912	Homo sapiens (human)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	UMOD	7369	Homo sapiens (human)
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)

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