GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4326 - 4350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112217	developmental and epileptic encephalopathy 81 Aliases: DEE81 early infantile epileptic encephalopathy 81	DMXL2	23312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070420	developmental delay, hypotonia, and impaired language Aliases: DEDHIL	FBXW7	55294	Homo sapiens (human)	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ANXA5 APOE CCR1 CHRNA4 CHRNA7 ELK1 GBA1 GPR37 IGF1R IGF2 KLK6 MAP2 NEFL NGFR NOS2 PCNA SNCA SNCB SNCG TARDBP	1137 1139 1230 2002 23435 2629 2861 308 348 3480 3481 4133 4747 4804 4843 5111 5653 6620 6622 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	APC IHH MUTYH PLCG1	324 3549 4595 5335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080061	autosomal recessive spinocerebellar ataxia 2 Aliases: SCAR2	PMPCA	23203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Aliases: FTDALS3	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ADRB2 ANXA1 ANXA2 ANXA5 APOA5 APOC3 APOE AQP3 ARSA BAD BDNF CAT COL1A2 COL2A1 CS CYP19A1 DPYSL2 DUOX1 DUOX2 ENTPD1 F7 GPX1 GRK3 GSN HLA-DQB1 HLA-DRB1 HSD3B1 IFNG IGFBP2 IL10 IL4 L1CAM LIPC MAP1A MAP1B MBP MSTN MYH7 NCAM1 NCOA1 NCOR1 ND3 NEFH NEFL NEFM NGF NOS2 NOS3 NR1D1 PAM PCNA PCSK1 PHKA1 PITX2 PLOD1 PLOD2 PLOD3 PNPLA3 RELN SERPINA7 SHH SLC26A5 SLC2A1 SLC34A1 SLC9A1 SOD1 SOD2 SRD5A1 TG THBD THRA TSHB UCP2 UCP3 WNT3A	116519 1278 1280 1431 154 157 1588 1808 2155 2660 2876 2934 301 302 308 3119 3123 3283 345 3458 348 3485 3565 3586 360 375611 3897 3990 410 4130 4131 4155 4537 4625 4684 4741 4744 4747 4803 4843 4846 50506 5066 5111 5122 5255 5308 5351 5352 53905 5649 572 627 6469 6513 6548 6569 6647 6648 6715 6906 7038 7056 7067 7252 7351 7352 80339 847 8648 89780 8985 953 9572 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050775	schneckenbecken dysplasia	SLC35D1	23169	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:10808	gastric ulcer Aliases: acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction	AGT ANGPT1 ANGPT2 BAD CAT CBLIF CFTR COL18A1 F13A1 FAS FASLG FOS FOXO4 HRH3 IDUA IL25 MMP13 MMP2 MMP3 MMP9 MUC5AC MUC6 NOS3 OXTR PTGER1 PTGS2 TEK TFF1 TIMP1	1080 11255 183 2162 2353 2694 284 285 3425 355 356 4303 4313 4314 4318 4322 4586 4588 4846 5021 572 5731 5743 64806 7010 7031 7076 80781 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	ARFGEF2 FLNA MAP1B NEDD4L	10564 2316 23327 4131	Homo sapiens (human)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 ALX4 AMIGO2 APOC3 ARID1A CAT CD44 CDK12 GPX1 HLA-DQA1 HNRNPA0 IL6 KMT2D MAP2K4 MAPK14 PLCE1 POLE PTPN13 PTPRA PTPRZ1 RAC1 RNASET2 RNF43 SLC7A5 STAT1 STAT5A STAT5B STAT6 TP53 UBR5 XPO1	10949 1432 154664 2876 3117 345 347902 3569 51196 51366 51755 5426 54894 5783 5786 5803 5879 60529 6416 6772 6776 6777 6778 7157 7514 8085 8140 8289 847 8635 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	GPX1 HBA1 HBA2 HBB HP	2876 3039 3040 3043 3240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B Aliases: CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B	KARS1	3735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	ADH1B ADH1C ADH4 ADRA2A AGO1 AGO2 AHR ALDH2 ANGPT1 AR BDNF BMAL1 BPTF CACNA1C CCK CHRNA3 CHRNB3 COMT CPE CREB1 CYP2C9 CYP2E1 CYP3A5 DRD1 DRD2 DRD4 FMN1 FOS FOSB GABBR1 GABRA2 GABRB3 GABRG2 GAD1 GAD2 GDNF GEMIN4 GGT1 GGTLC1 GGTLC2 GRIN2A GRM8 HTR1A HTR1B HTR2A HTR3A IGF1R IL1RN INSR INSRR KCNB2 LEP NCAM1 NGF NGFR NR3C2 NRXN3 NUCB2 OPRD1 OPRK1 OPRM1 PDE4B PER2 POMC PRL RPS6KB1 SLC29A1 SLC6A1 SLC6A2 SLC6A4 TAS2R16 XRCC5	1136 1142 125 126 127 1312 1363 1385 150 1559 1571 1577 1812 1813 1815 196 2030 217 2186 2353 2354 2550 2555 2562 2566 2571 2572 26523 2668 2678 27161 284 2903 2918 3350 3351 3356 3359 342184 3480 3557 3643 3645 367 3952 406 4306 4684 4803 4804 4925 4985 4986 4988 50628 50833 5142 5443 5617 6198 627 6529 6530 6532 7520 775 885 8864 91227 92086 9312 9369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	ALB EGF IGF1R	1950 213 3480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	CACNA1G	8913	Homo sapiens (human)	Alliance of Genome Resources
DOID:746	adenomatoid tumor Aliases: adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma	TRAF7	84231	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050578	occult macular dystrophy	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ADRB3 AFP AKT2 APC APEX1 AR ATM ATR BAD BRCA2 BST2 CD59 CD9 CDC25B CDH1 CHI3L1 COMT CYP19A1 CYP1A1 CYP1A2 EFEMP2 EGF ERRFI1 IL10 JAK1 JUP LTA MRE11 MSH6 NOTCH1 NOTCH4 PGM1 PIK3CB PIK3CD POLE PTEN RNF43 RUNX1 SHBG SPAG9 SULT1E1 TFF1 TNFRSF1A TNFRSF1B TP53 TYMP UGT1A1	1116 1312 1543 1544 155 1588 174 1890 1950 208 2956 30008 324 328 3586 367 3716 3728 4049 4361 472 4851 4855 5236 5291 5293 54206 5426 545 54658 54894 572 5728 6462 675 6783 684 7031 7132 7133 7157 861 9043 928 966 994 999	Homo sapiens (human)	Alliance of Genome Resources

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