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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:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)
DOID:1963	fallopian tube carcinoma Aliases: cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca	MRC1	4360	Homo sapiens (human)
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	ACADM CAT G6PD GPX3 OGDH OXCT1 PGM1	2539 2878 34 4967 5019 5236 847	Homo sapiens (human)
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	GGT1 HTR2A	2678 3356	Homo sapiens (human)
DOID:2998	testicular cancer Aliases: childhood neoplasm of the testis neoplasm of testis pediatric testicular neoplasm testicular tumor testis cancer testis neoplasm	ACACA ACE ALDH1A3 ALDH7A1 ALOX12 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP3A5 CYP3A7 ETNK1 FH GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 ICAM1 IL18R1 L1CAM LCT LDHC LGALS3 LY6K MCFD2 MRC1 PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 TKTL1 TP53 UGT1A1	1047 124912 1543 1544 1551 1555 1577 1586 1588 1636 220 2271 23213 23583 239 240 242 250 2650 2678 2719 27306 31 3161 3295 3383 3897 3938 3948 3958 412 4360 501 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 7157 8277 8809 90411 960	Homo sapiens (human)
DOID:0060701	familial hypocalciuric hypercalcemia 2 Aliases: FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II	CYP24A1	1591	Homo sapiens (human)
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	CD38 CEACAM5 CEACAM7 CMAS	1048 1087 55907 952	Homo sapiens (human)
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	APRT CALR DPAGT1 GNPTAB GNPTG GUSB IDUA IGF2R NAGPA OGA PLCD1 PLCG1	10724 1798 2990 3425 3482 353 51172 5333 5335 79158 811 84572	Homo sapiens (human)
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:11486	Horner's syndrome Aliases: Bernard Horner syndrome Horner syndrome cervical sympathetic paralysis	ACE ACHE ATP6AP2 COMT GLA PIK3CA PIK3CB PIK3CD PIK3CG PRNP SPTLC1 TM7SF2	10159 10558 1312 1636 2717 43 5290 5291 5293 5294 5621 7108	Homo sapiens (human)
DOID:0060580	Noonan syndrome 2 Aliases: NS2	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0110582	autosomal dominant nonsyndromic deafness 58 Aliases: DFNA58 autosomal dominant deafness 58	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:0050793	short QT syndrome	CACNA2D1 KCNQ1	3784 781	Homo sapiens (human)
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	CYP2E1 LYZ PAFAH1B1 PTEN PTGS2	1571 4069 5048 5728 5743	Homo sapiens (human)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)
DOID:13934	facial paralysis Aliases: Facial Palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:401	multidrug-resistant tuberculosis	HACD1 NCAM1 PTGS2 RENBP SMUG1	23583 4684 5743 5973 9200	Homo sapiens (human)
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABO ACE ALPP ATRNL1 B3GAT1 CD14 CD1D CD74 CLEC16A CNTN5 COG6 CYP21A2 CYP3A4 CYP7A1 DAG1 DBT DGCR2 DGKQ DLAT DLST FH GGT1 GLB1 HK1 HPGDS ICAM1 IL18R1 ITLN1 L1CAM LEP LEPR LGALS3 MANBA MBL2 OGDH PDHX PIK3CA PLCB1 PNPLA3 POGLUT1 PPARGC1A PTGS2 SOAT1 TNF UGT2B4 VCAM1 VTCN1	10891 1576 1581 1589 1605 1609 1629 1636 1737 1743 2271 23236 23274 250 26033 2678 27087 2720 27306 28 3098 3383 3897 3952 3953 3958 4126 4153 4967 5290 53942 55600 56983 5743 57511 6646 7124 7363 7412 79679 80339 8050 8809 912 929 972 9993	Homo sapiens (human)
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ACE ACO2 ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD248 CD44 CD55 CEACAM5 CEACAM7 CEL CEMIP CHAT CHI3L1 CHIT1 CHST15 CTSA CYP27B1 CYP2C9 DCN DEGS1 ELOVL6 ENO1 ENPP2 FASN FCGR3B FOLR2 FUT8 GGT1 GLB1 HAS2 HK2 HPGDS HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 INPP5D KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G4A PLAUR PRKAA2 PTEN PTGS1 PTGS2 RECK SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SPHK2 SULF1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 10825 1087 10998 1103 1116 1118 142 1462 1559 1594 1604 1634 1636 2023 2194 2215 22914 23213 2350 23556 23583 240 248 250 2530 253558 26229 2678 27087 2720 27306 279 3037 308 3099 3383 353 3635 3897 3939 3956 3958 4048 410 427 4350 4360 4758 4907 4968 50 51363 51548 5168 5290 5291 5293 5294 5310 5311 5321 5329 5476 5563 55959 56848 57124 57214 5728 5742 5743 6382 6383 6385 6401 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8434 847 8482 8560 8809 8877 8879 90161 9173 9365 9394 960	Homo sapiens (human)
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ABO ACACA ALDH2 CD44 CEACAM5 CHGA CYP2C19 CYP2E1 CYP3A4 DCN GAD1 GLUL GPI L1CAM NAGLU NGLY1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2 TM7SF2 VTCN1	1048 1113 1557 1571 1576 1634 217 2571 2752 28 2821 31 3897 4669 4968 51196 5290 5291 5293 5294 55768 5728 5743 7108 79679 960	Homo sapiens (human)
DOID:0060857	septooptic dysplasia Aliases: De Morsier syndrome SOD septo-optic dysplasia	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD44 CD55 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HS6ST1 LARGE1 NSDHL NT5E PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SEMA7A STS TMTC3	10329 10585 11041 148789 1604 160418 1605 1718 1743 2218 23545 29954 412 4907 5048 50814 51227 523 55624 729920 79147 84197 8482 84892 9091 9215 9394 960 9896	Homo sapiens (human)
DOID:4961	bone marrow disease Aliases: bone marrow disorder	CNTN2 HPRT1 IL18RAP PGP PIK3CD PTGS2 SMUG1 TMTC1	23583 283871 3251 5293 5743 6900 83857 8807	Homo sapiens (human)
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:4908	anal carcinoma Aliases: Ca anus carcinoma of anus	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)

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