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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 **10751 - 10775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:654	overnutrition	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	EYA4	2070	Homo sapiens (human)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	CAT EPAS1 ICAM1 MBL2 NDST1 NPSR1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SOD1 VEGFA	2034 3340 3383 387129 4153 6439 6440 6441 653509 6647 729238 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	SNRPA SNRPB2	6626 6629	Homo sapiens (human)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	HEXB	3074	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	A2M ABAT ABCA1 ACADVL ACE ACHE ADAM10 ADAM17 ADAM2 ADAM9 ADIPOQ ADRA1A ADRB3 AGER AGT AGTR1 AIFM1 AKR7A2 ALDH2 ALOX15 ANK2 ANXA5 AOC3 APBB1 APC APLP1 APLP2 APOA1 APOA4 APOD APOE APP AQP4 ASS1 ATF2 ATM ATP5F1A ATP7A ATR BACE1 BACE2 BAD BAIAP2 BARHL1 BAX BCHE BDNF BPTF C2 C3 C5AR1 CALML5 CAMK2A CAPN1 CASP6 CASP7 CASP9 CAST CCL5 CCR1 CCR5 CD36 CD40LG CDC42 CDK5 CDK7 CEBPB CFTR CHAT CHRNA4 CHRNA7 CLOCK CLU CTNNB1 CTSD CTSS CYP19A1 CYP46A1 CYP51A1 DBN1 DLST DNM1 DNM1L DRD1 DRD2 DRD3 DRD4 DRD5 DYNC1H1 E2F1 ECE1 EEF1A2 EEF2 EGF EGR1 EIF2AK2 EIF2S1 ELK1 ENO1 EP300 EPHA4 EPO EPOR ESR1 FADD FAS FGFR1 FOXO3 GAPDH GAPDHS GCG GDNF GLUD1 GLUL GNAS GRIN1 GRIN2A GRIN2B GRN GSK3B GSTO1 GSTO2 HADHA HADHB HBA1 HBA2 HFE HIF1A HIVEP1 HIVEP2 HIVEP3 HLA-DRB1 HMGCR HNRNPA1 HNRNPA2B1 HRAS HSD17B10 HSD17B3 HSD3B2 HSF1 HSP90AA1 HSPA1A HSPA1B HSPA9 HSPB1 HSPD1 HTR1A HTR2A ICAM1 IGF1R IGF2 IGFBP2 IGFBP3 IKBKB IL10 IL1A IL2 IL3 IL4 IL6 IL6R IL6ST IL7 INS INSR IREB2 IRS1 IRS2 ITPR1 KCNC4 KCNMA1 KLK6 L1CAM LDLR LEP LIPC LPA LPL LRP1 LRP8 LRPAP1 MAOA MAP2 MAPK14 MAPK9 MAPT MBL2 MCM2 MME MMP2 MMP9 MRE11 MT1E MT1H MT2A NBN NCAM1 NCSTN NDUFB8 NDUFS3 NECTIN2 NEFL NEFM NFE2L2 NGF NGFR NOS1 NOS2 NOS3 NOTCH4 NRG1 NRP1 NTF3 NTRK1 NTRK2 OPA1 PAK1 PARP1 PAWR PCK1 PCMT1 PCSK1N PDGFB PEBP1 PHACTR2 PITRM1 PLAU PLCB1 PLCD1 PLCG1 PON1 PON2 PON3 PPARA PPARG PPARGC1A PPP1R9B PSMC5 PTGS1 PTGS2 RCOR1 REG1A RELN SELL SELP SERPINE2 SERPINF1 SIRT1 SIRT3 SLC18A3 SLC2A1 SLC2A3 SLC8A1 SLC8A2 SLC8A3 SNAP91 SNCA SNCB SNCG SNRNP70 SNRPA SOD1 SOD2 SORL1 SOX13 SOX5 SOX6 SPINT1 STAT3 SYP TARDBP TBP TFAM THBD TLR4 TM2D1 TM2D2 TM2D3 TMED10 TNF TNFRSF1A TNFRSF1B TOMM40 TPH1 TSC2 TTR UQCRC1 VEGFA VIM VLDLR XRN1	10059 102 1020 1022 10452 10458 1051 10531 1080 10858 10891 10972 1103 1137 1139 1191 119391 1230 1234 1386 142 1432 148 1499 1509 1520 155 1588 1595 1627 1636 1743 1759 177 1778 18 1812 1813 1814 1815 1816 183 185 1869 1889 19 1917 1938 1950 1958 1965 2 2002 2023 2033 2043 2056 2057 2099 217 2186 2260 2309 23186 23236 23385 23410 23411 23435 23621 246 2515 25825 2597 26330 2641 2668 27344 2746 2752 2778 287 2896 2902 2903 2904 2932 3028 3030 3032 3039 3040 3077 308 3084 3091 3096 3097 3123 3156 3178 3181 322 324 3265 3284 3293 3297 3303 3304 3313 3315 3320 3329 333 334 335 3350 3356 337 3383 347 348 3480 3481 3485 3486 351 355 3551 3552 3558 3562 3565 3569 3570 3572 3574 3586 361 3630 3643 3658 3667 37 3708 3749 3778 3897 3949 3952 3990 4018 4023 4035 4043 4128 4133 4137 4153 4171 43 4311 4313 4318 4361 445 4493 4496 4502 4683 4684 4714 472 4722 4741 4747 4780 4803 4804 4842 4843 4846 4855 4908 4914 4915 4976 498 5037 5058 5074 5105 5110 5155 5176 51806 5270 5328 5333 5335 538 5444 5445 5446 54464 545 5465 5468 55553 5601 5610 5649 5653 56751 5705 572 5742 5743 581 5819 590 59269 5967 627 6352 6402 6403 6513 6515 6543 6546 6547 6572 6620 6622 6623 6625 6626 6647 6648 6653 6660 6692 6774 6855 6868 6908 7019 7056 7099 7124 7132 7133 7166 717 718 7249 7276 728 7384 7422 7431 7436 7804 80213 815 823 831 83877 839 83941 840 842 84687 8574 8639 8660 8754 8772 8829 9131 9370 9446 948 9575 9580 959 9749 9892 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110156	Charcot-Marie-Tooth disease type 2B1 Aliases: CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	IRAK3 PLAUR SERPINF1 TLR5 TREM1	11213 5176 5329 54210 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:2855	hyperthyroxinemia	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111935	immunodeficiency 16 Aliases: IMD16 OX40 deficiency combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8	TNFRSF4	7293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110360	retinitis pigmentosa 39 Aliases: RP39	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081372	lacrimoauriculodentodigital syndrome 3 Aliases: Lacrimo-auriculo-dento-digital syndrome 3	FGF10	2255	Homo sapiens (human)	Alliance of Genome Resources
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AGT AGTR2 ATF2	1386 183 186	Homo sapiens (human)	Alliance of Genome Resources
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	ACVR2A TFRC	7037 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	MAP2K1	5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110670	congenital myasthenic syndrome 9 Aliases: CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB COL1A1 H2AX HSPA4 IL10 KMT5C MAP2K3 MET TUT4	1277 229 23318 3014 3308 3586 4233 5606 84787	Homo sapiens (human)	Alliance of Genome Resources
DOID:12336	male infertility	ADAMTS16 ARMC2 BSCL2 CABYR CAPZA3 CFAP47 CSNK2A2 CYLC1 FAS GPX3 KIT PMFBP1	1459 1538 170690 26256 26580 286464 2878 355 3815 83449 84071 93661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050486	exanthem	CCR6	1235	Homo sapiens (human)	Alliance of Genome Resources
DOID:9849	Meniere's disease Aliases: Meniere disease Mnire's vertigo Otogenic vertigo	AQP4 HLA-B HLA-DRB1 HSPA1A	3106 3123 3303 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2 COQ9	27235 57017	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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