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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15251 - 15275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1 SLC25A12 SLC25A13	10165 445 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110705	hypotrichosis 8 Aliases: Hypt8 Lah3 hypotrichosis, localized, autosomal recessive 3	LPAR6	10161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC35C1 SLC37A4 TMEM165	10159 2542 2590 55343 55858 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG1L2 ALG3 ATP6AP2 B4GALT1 NUS1 PMM2	10159 10195 116150 2683 5373 56052 644974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050759	myotonic dystrophy type 2	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:450	myotonic disease	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	LDB3 MBNL1 MBNL2 SIX4 SIX5	10150 11155 147912 4154 51804	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	ADGRG2	10149	Homo sapiens (human)	Alliance of Genome Resources
DOID:3571	liver cancer Aliases: Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver	Adam28 Ces1d Gpt Ikbkb Il10 Pcna Setd2 Slco1b2 Slco2b1	101488 104158 13522 16150 16153 18538 235626 28253 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4gnt Abcc2 Abcc3 Abcc5 Abo Acvr1 Acvr1b Acvr2a Adam15 Adam9 Adgre5 Adh1 Ager Agtr2 Akt1 Aldh1a1 Aldh1a7 Aldh2 Arpc1a Artn B3galt5 Bad Bag3 Braf Cacybp Cap1 Casp9 Cckar Cckbr Ccr4 Cftr Egf Egfr Eif4a3 Epha3 Ezh2 Fanca Fasl Flt3l Fscn1 Gdnf Gnas Hgf Hs3st2 Hspb1 Icam1 Ifng Igf1r Il10 Il13 Il13ra2 Il1a Il2 Il3 Il4 Il4ra Ins1 Ins2 Itga4 Itga9 Kdr Kras L1cam Lum Map2k4 Met Mgat4a Mki67 Mmp2 Mmp9 Mpo Msln Mtap Mtor Muc1 Muc4 Muc5ac Muc6 Ncam1 Ngfr Ntrk1 Ogg1 Palld Pdgfra Pfn1 Pparg Ptch1 Ptgs2 Rap1gap Rela Ret Rxra Sel1l Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Slco2b1 Smad2 Smad4 Smo Sncg Snw1 Sod1 Sod2 Spp1 Tcf7l2 Tgfa Tgfb1 Tgfbr2 Thbs1 Trp53 Tymp Ugt1a10 Ugt1a7c Ugt1a8 Ugt1a9 Vcam1 Wnt9a	101488 104099 109880 110351 11477 11479 11480 11490 11502 11522 11596 11609 11651 11668 11669 11876 12015 12301 12331 12371 12425 12426 12638 12773 12780 13645 13649 13837 140474 14056 14086 14087 14103 14256 14573 14683 15234 15507 15894 15978 16001 16153 16163 16165 16175 16183 16187 16189 16190 16333 16334 16401 16542 16653 16728 17022 17126 17128 17295 17345 17390 17395 17523 17829 17833 17967 18053 18211 18294 18595 18643 19016 19206 192170 19225 195646 19697 19713 20181 20338 20618 20655 20656 20700 20701 20702 20703 20704 20750 21416 216795 21802 21803 21813 21825 22059 22329 26358 26364 26398 269181 27416 29810 319757 333424 353328 394430 394432 394434 56047 56443 56717 613123 66354 66902 72333 72962 76408 80908 93961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110652	long QT syndrome 11 Aliases: LQT11	AKAP9	10142	Homo sapiens (human)	Alliance of Genome Resources
DOID:1781	thyroid cancer Aliases: Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm	CDH16	1014	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	RBM12	10137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	Arhgap31 Dll4 Dock6 Eogt Notch1	101351 12549 18128 319899 54485	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8893	psoriasis	ADRB2 AGER ALB ALOX12 ANXA1 APOE C2 CADM2 CAST CAT CCR2 CCR5 CCR6 CD40 CFB CFH CFI CLU COMT CTLA4 CYP1A1 ELN EPAS1 FABP5 FCGR2A FLT1 GBA1 HIF1A HLA-DQA1 HLA-DQB1 ICAM1 IL10 IL13 IL13RA1 IL17A IL20 IL23R IL25 IL2 IL3 IL4 IRAK1 ITGB2 KDR LTA LTBR MBL2 MKI67 NAMPT RBP4 SOD2 SPINT1 SPTLC2 STAT3 STAT4 TAP1 TGFB1 TLR2 TLR4 TNF TNFRSF1A TNFRSF1B TTC7A VEGFA	10135 1191 1234 1235 1312 149233 1493 154 1543 177 2006 2034 213 2171 2212 2321 239 253559 2629 301 3075 3091 3117 3119 3383 3426 348 3558 3562 3565 3586 3596 3597 3605 3654 3689 3791 4049 4055 4153 4288 50604 57217 5950 629 64806 6648 6692 6774 6775 6890 7040 7097 7099 7124 7132 7133 717 729230 7422 831 847 9517 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	ABCC8 ACE2 ACE AGER AGT AIFM1 ALB AP2B1 APOE APP AQP4 BAD BAX BCAN BDNF C1QTNF6 C3 CALCA CAMK2A CASP6 CASP9 CD86 CREB1 CRTC1 CSF3 CXCR3 CYP2E1 DICER1 EGR1 EGR2 EIF2S1 ELANE EPCAM EPHB2 EPN1 EPO ERCC6 F12 FADD GAP43 GAPDH GDNF GHRL GHSR GLUL GRIN1 GSK3B HAS2 HDAC4 HDAC9 HIF1A HMGB1 HP HPR HSPA4 IL13 IL1RN IL4 IL5 IL6 IL7R IRF4 KCNN4 MAG MAPT MMP9 MTOR NAMPT NCAM1 NFE2L2 NGF NGFR NOD2 NOS2 NOX1 NRG1 OGG1 PARK7 PARP1 PAWR PDGFRA PDGFRB PLAT PTPRZ1 RGMA RPL28 RUNX1 SERPINE1 SERPINF1 SHH SIRT1 SLC12A2 SLC1A2 SLC2A1 SLC9A1 SMO SNAP91 SOD1 TGFB1 TNF TNFRSF1A TREM1 UPP1 VEGFA	10135 11315 114904 1385 142 1440 1571 163 1636 177 183 1958 1959 1965 1991 2048 2056 2074 213 2161 23373 23405 23411 2475 2596 2597 2668 2693 27035 2752 2833 2902 2932 29924 3037 3084 3091 3146 3240 3250 3308 348 351 3557 3565 3567 3569 3575 3596 361 3662 3783 4072 4099 4137 4318 4684 4780 4803 4804 4843 4968 5054 5074 5156 5159 51738 5176 5327 54210 56963 572 5803 581 59272 6158 627 63827 64127 6469 6506 6513 6548 6558 6608 6647 6833 7040 7124 7132 718 7378 7422 796 815 839 842 861 8772 9131 942 9734 9759 9892	Homo sapiens (human)	Alliance of Genome Resources
DOID:1074	kidney failure Aliases: renal failure	AMBP CD80 DRD1 EDN1 GFER GRP HIF1A KL MT1E MT1H MT2A NAMPT NPHS1 PARP1 PHEX PPARGC1A RHCG SERPINF1 SLC22A2 SLCO4C1 SPP1 TBXA2R TLR2 TLR4 TNFRSF1B	10135 10891 142 1812 1906 259 2671 2922 3091 353189 4493 4496 4502 4868 51458 5176 5251 6582 6696 6915 7097 7099 7133 9365 941	Homo sapiens (human)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	AGER AGT AGTR1 B2M CD14 CD40LG CD63 CETP CTSS FGB HFE HGF HSPD1 HSPG2 IL10 LTA LTB4R LUM MMP1 MMP2 MMP8 MMP9 NAMPT PAPPA PGF PLA2G7 PPARG PRL PTGDS SELPLG SOD2 SREBF2 TGFB1 TLR4 TNFRSF11B UCP2 VCAM1 VWF	10135 1071 1241 1520 177 183 185 2244 3077 3082 3329 3339 3586 4049 4060 4312 4313 4317 4318 4982 5069 5228 5468 5617 567 5730 6404 6648 6721 7040 7099 7351 7412 7450 7941 929 959 967	Homo sapiens (human)	Alliance of Genome Resources
DOID:824	periodontitis Aliases: chronic pericementitis	ADRB1 AGER APP CCL2 CD14 CD274 CD40LG CLDN1 CYP1A1 ELANE FMOD HMGB1 IFNGR1 IL10 IL1A IL1RN IL6 LBP MET MME MMP13 MMP1 MMP2 MMP3 NAMPT NTRK1 PDCD1 POSTN PPARA TNF TREM1 VCAM1	10135 10631 153 1543 177 1991 2331 29126 3146 3459 351 3552 3557 3569 3586 3929 4233 4311 4312 4313 4314 4322 4914 5133 54210 5465 6347 7124 7412 9076 929 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ABCB1 ABCC2 ABCC3 ABCG5 ABCG8 ACACA ACACB ACADM ACADVL ACO1 ACTB ADAMTS13 ADIPOQ ADRB3 AHCY AKT1 ALDH2 APOE ATP5F1A AZGP1 CCL2 CCL5 CCR2 CD163 COL1A1 CYP2E1 DGAT2 EZH2 FASN FOXO1 FTO G6PD GPAM HADHA HFE HMGCR HP HPR IFNA2 IGF1R IGFBP7 IL10 IL13 IL1RN IL6 INSR IRS1 IRS2 KRT18 LEP LEPR LPL MLXIPL MLYCD NAMPT NFE2L2 PKLR PLA2G7 PLIN1 PLIN2 PLIN3 PLIN5 PNPLA3 PON2 PPARGC1A PPARGC1B PPDPF RARRES2 SAMM50 SCD SERPINE1 SIDT2 SIRT1 SIRT2 SIRT3 SIRT4 SIRT6 SLC7A3 SOD2 SREBF1 STAT3 TFRC TG TLR4 TLR9 TNF UBR1 UCP2	10135 10226 10891 11093 123 1244 1277 133522 155 1571 191 197131 207 2146 217 2194 22933 2308 23409 23410 23411 23417 2539 25813 3030 3077 31 3156 32 3240 3250 34 3440 348 3480 3490 3557 3569 3586 3596 3643 3667 37 3875 3952 3953 4023 440503 4780 48 498 5054 51085 51092 51548 5243 5313 5346 54106 5445 563 57678 5919 60 6319 6347 6352 64240 64241 6648 6720 6774 7037 7038 7099 7124 729230 7351 79068 79144 7941 80339 84649 84889 8660 8714 9332 9370	Homo sapiens (human)	Alliance of Genome Resources

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