GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2326 - 2350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 SELP VCAM1	10855 1738 27163 3956 3964 4669 5319 5320 60495 6403 64083 7412 8398	Homo sapiens (human)
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)
DOID:1856	cherubism	ACAN APRT B3GALT6 B3GAT1 DCN EXT1 EXT2 EXTL3 HPSE IDH1 IDH2 PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 126792 1634 176 2131 2132 2137 23583 27087 3417 3418 353 5336 5728 5743 8658	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)
DOID:0110740	neurodegeneration with brain iron accumulation 6 Aliases: CoPAN NBIA6 Neurodegeneration with brain iron accumulation due to COASY mutation	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:9655	oral mucosa leukoplakia	ALDH2 CYP1A1 CYP1B1 CYP2E1 HPGDS LGALS1 LYZ OGG1 PTGS2 TP53	1543 1545 1571 217 27306 3956 4069 4968 5743 7157	Homo sapiens (human)
DOID:12841	ancylostomiasis	CHIT1	1118	Homo sapiens (human)
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	ICAM1 IL1R1 PSMD10 PTGS2 TLR2 TLR4 TNF TP53	3383 3554 5716 5743 7097 7099 7124 7157	Homo sapiens (human)
DOID:0110763	hereditary spastic paraplegia 10 Aliases: SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:12978	Plasmodium vivax malaria Aliases: Malaria by Plasmodium vivax Vivax Malaria	ABO ACOT7 CD55 CYP4F3 G6PD GPI HPGDS PGD PGM1	11332 1604 2539 27306 28 2821 4051 5226 5236	Homo sapiens (human)
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MAPK14 MICA MRC1 MUTYH NT5E NTHL1 OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SDHA SDHC SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1432 1543 1544 1571 1586 1588 1591 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4913 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6389 6391 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)
DOID:4193	intracranial thrombosis Aliases: cerebral thrombosis	PCYT1A	5130	Homo sapiens (human)
DOID:0060316	orofaciodigital syndrome I Aliases: Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3 Aliases: LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:3225	tracheal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	GBA1	2629	Homo sapiens (human)
DOID:0080599	Coronavirus infectious disease	ACE CD209 MBL2 SFTPD	1636 30835 4153 6441	Homo sapiens (human)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT ICAM1 TNF	3383 7124 847	Homo sapiens (human)
DOID:2095	sweat gland cancer Aliases: malignant neoplasm of sweat gland malignant tumor of the Sweat gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	ABO ACE ACOT7 ADH1C ALDH2 AMY2A APRT CAT CBR1 CD14 CERS6 CHI3L1 CLEC16A COMT CYB5R4 CYP19A1 CYP1B1 DCN DDOST DGAT1 ENPP1 FCGR3B G6PC1 G6PC2 G6PD GAD1 GAD2 GBA1 GCG GCK GGT1 HK2 HSD11B1 HSD11B2 ICAM1 IL1R1 INPPL1 KCNJ11 L1CAM LGALS3 LIPC LPIN1 LPL MBL2 MOGAT2 NAMPT NEIL1 NEU1 OGA OLR1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLB1 PLCB1 PNPLA2 PNPLA3 PPARGC1A PPP1R3A PRKAA2 PTGES2 RTN4R SCD SGPL1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC2A4 SLC35A1 SLC5A1 SOAT1 SRGN UMOD VCAM1	10135 10559 10724 10891 1116 11332 126 1312 151056 1545 1588 1634 1636 1650 217 2215 22933 23175 23236 23274 253782 2538 2539 2571 2572 2629 2641 2645 26503 2678 279 28 283871 3099 3290 3291 3383 353 3554 3636 3767 3897 3958 3990 4023 4153 4758 4973 51167 51548 5167 5290 5291 5293 5294 5315 5506 5552 5563 57104 57818 6319 6476 65078 6514 6515 6517 6523 6646 7369 7412 79661 80142 80168 80339 847 8694 873 8879 929	Homo sapiens (human)
DOID:12934	Kearns-Sayre syndrome	MAG SGSH	4099 6448	Homo sapiens (human)
DOID:2636	ovarian Brenner tumor Aliases: benign ovarian Brenner tumor benign ovarian Brenner tumour ovarian Brenner tumour	PIK3CA	5290	Homo sapiens (human)

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