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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 **6026 - 6050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	ACE ACHE ALG1 ALG3 ALPI ALPP AMT CAT CD33 CHGA CHI3L1 CHIT1 CYP46A1 DHCR24 ENO1 ENO2 FCN2 G6PD GALC GAPDHS GPI HPRT1 IDUA IGF2R INPP5D LGALS3 MDH1 MMUT MTMR7 NCAM1 OGDH PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCG2 PRNP PTGES3 PTGS1 PTGS2 SDC3 SLC2A4 SMUG1 SRD5A3 STS SUCLA2 SULT1E1 SYNJ1 TPI1	10195 10728 10858 1113 1116 1118 1636 1718 2023 2026 2220 23583 248 250 2539 2581 26330 275 2821 3251 3425 3482 3635 3958 412 4190 43 4594 4684 4967 5223 5290 5291 5293 5294 5310 5336 56052 5621 5742 5743 6517 6783 7167 79644 847 8803 8867 9108 945 9672	Homo sapiens (human)
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	GFPT1	2673	Homo sapiens (human)
DOID:5759	sebaceous gland neoplasm Aliases: Sebaceous neoplasm	MRC1	4360	Homo sapiens (human)
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	ACACA AGPAT2 CALR CHODL COMT EFNA5 HGSNAT MAN1B1 SLC3A1 ST8SIA4	10555 11253 1312 138050 140578 1946 31 6519 7903 811	Homo sapiens (human)
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
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)
DOID:1443	cerebral degeneration Aliases: Brain degeneration	ABO ACACA ACADVL ACAT1 ACE ACER3 ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADH1B ADPRS AGA AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALG11 ALG13 ALG1 ALG3 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATP6AP2 ATP6V1A ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GLCT BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG1 COG4 COG5 COG6 COG7 COLGALT1 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 DSE EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FH FOLR2 FUCA1 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GBA2 GFRA1 GGT1 GLB1 GLO1 GLUL GM2A GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LMAN2L LPL LTC4S LYZ LYZL4 MAG MAN1B1 MAN2B1 MASP1 MBL2 MBOAT7 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MOGS MPDU1 MPG MPI MRC1 NAAA NAGA NAMPT NANP NANS NCAM1 NDST1 NEU1 NGLY1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCCA PCCB PCK1 PCYT1A PCYT1B PCYT2 PDHA1 PEMT PFKFB3 PGAP1 PGD PGP PI4KA PIGC PIGG PIGL PIGN PIGT PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL3 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG1 SUCLG2 SUMF1 SYNJ1 TECR TIGAR TKT TM7SF2 TMED9 TPI1 TUSC3 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11253 11332 11343 1178 1203 125 1272 128869 130749 1312 131375 132789 1374 140838 142 1431 145173 1462 1464 148789 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 175 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 2271 22933 23127 23236 23274 23305 2350 23556 23583 23646 23659 239 240 248 250 2517 2539 2571 2572 25839 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 2760 28 2817 2821 283871 285362 2876 2990 29940 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3340 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4125 4153 4191 4241 4248 427 43 4350 4351 4360 440138 4594 4668 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5095 5096 5105 51084 51266 5130 51478 51548 5160 51604 5168 51763 5209 5226 523 5279 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 54872 54936 55331 5538 55512 5553 5563 55741 55753 55768 55902 55997 56052 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 57511 57704 5833 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6487 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 7841 79143 79154 7941 7957 79709 79712 79868 7991 79947 79966 80055 80142 80896 811 81562 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8802 8803 8867 8877 9023 9104 9173 91949 9197 929 9365 9382 9388 9420 945 9468 9487 952 9524 9526 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	ALPI ALPP B3GAT1 CACNA2D1 CD44 HK2 HSPG2 ICAM1 IDH1 LIPG MBD4 MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB4 PTEN SDHD SULF2 TNFRSF10C TPI1	100507436 142 248 250 27087 3099 3339 3383 3417 5290 5291 5293 5294 5332 55959 5728 6392 7167 781 8794 8930 9388 960	Homo sapiens (human)
DOID:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)
DOID:7763	carcinoma of supraglottis Aliases: Supraglottic carcinoma	PTEN	5728	Homo sapiens (human)
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC18B CLEC9A CNTN6 COLEC11 COMT CTSA CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP3A4 CYP4F3 CYP7B1 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2 IGF2R KLRB1 KLRC1 KLRD1 LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 NTM OGG1 PARP1 PIK3C2A PIK3CA PLA2G15 PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SLC35F4 SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1589 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27255 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 341880 347527 3481 3482 3820 3821 3824 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 497190 50863 5286 5290 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 9420 952	Homo sapiens (human)
DOID:0110515	autosomal recessive nonsyndromic deafness 63 Aliases: DFNB63 autosomal recessive deafness 63	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:12156	arachnoiditis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 LYZ MBL2 NEU1 OGG1 PARP1 PRNP	1040 1116 142 2588 3383 353 4069 4153 4758 4968 55556 5621 57124 847	Homo sapiens (human)
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ABO ACAN ACE ACHE ACOT7 ACSL1 ADH5 ADIPOQ AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CHAT CHI3L1 CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FADS2 FASN FCER2 FCGR3B FCN2 FKRP FUCA1 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 INS IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PDX1 PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TLR2 TLR4 TM7SF2 TNF UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 1056 10724 10747 10855 1103 1116 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2517 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3481 3482 353 3554 3630 3635 3636 3651 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 43 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7097 7099 7108 7124 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9370 9415 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:4193	intracranial thrombosis Aliases: cerebral thrombosis	PCYT1A	5130	Homo sapiens (human)
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)

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