GlyCosmos Portal

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

Displaying entries **15276 - 15300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0070132	autosomal recessive cutis laxa type IIIA Aliases: ARCL3A De Barsy syndrome A	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH18A1 CTH ECHS1 GCSH GLUL HIBADH HIBCH HMGCL HMGCLL1 KMO MAT2A PCCA PCCB PHGDH SHMT1 SHMT2 TARS1 TARS2 TARS3	11112 123283 1491 1892 26227 26275 2653 2752 3155 4144 5095 5096 54511 5832 6470 6472 6897 80222 8564	Homo sapiens (human)	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	ALDH18A1 AP5Z1 ATL2 ATL3 ATP13A2 ATP13A3 ATP13A5 BSCL2 CAPN1 CAPN3 DNM1 DNM2 ERLIN1 ERLIN2 HSPD1 KIF5B L2HGDH NIPAL1 NIPAL4 PNPLA6 PNPLA7 PSMC4 RTN1 RTN2 RTN3 RTN4 SEC23IP SPAST	10313 10613 10908 11160 11196 152519 1759 1785 23400 25923 26580 3329 344905 348938 375775 3799 5704 57142 5832 6252 6253 64225 6683 79572 79944 823 825 9907	Homo sapiens (human)	Alliance of Genome Resources
DOID:112	esophageal varix Aliases: Bleeding esophageal varices Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC esophageal varices without bleeding esophageal varices without mention of bleeding	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:13576	twin-to-twin transfusion syndrome Aliases: Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin Twin to twin transfusion Twin-to-twin blood transfer	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:620	blood protein disease Aliases: blood protein disorder	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:2855	hyperthyroxinemia	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:14525	Reye syndrome Aliases: Reye's syndrome	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:6271	gastric cardia adenocarcinoma Aliases: adenocarcinoma of Cardia of stomach	ALB XRCC1	213 7515	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:11801	protein-energy malnutrition	ALB CYP19A1 LIPC	1588 213 3990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	ALB CTPS1 FASLG HGF IL4 IL6 MDM2 MTAP MUC1 MUC4 MUC5AC	1503 213 3082 356 3565 3569 4193 4507 4582 4585 4586	Homo sapiens (human)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ALB CD40 CD40LG CD86 FAS FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 IL10 IL1A IL1RN IL2 IL4 ITGB3 PLAT TGFB1	213 2212 2213 2214 3119 3123 355 3552 3557 3558 3565 3586 3690 5327 7040 942 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	ALB CCL11 CCL2 CCR5 CLPTM1L CSF3 CXCR3 EDNRA EGR1 ELANE FGA FSTL1 FUT8 GCLC HDAC2 ITGB6 JUN KEAP1 KL MMP1 MMP2 MMP9 NFE2L2 NOS2 PTGS2 PTMA SERPINA1 SFTPC SMO SMPD3 TGFB1 TLR4	11167 1234 1440 1909 1958 1991 213 2243 2530 2729 2833 3066 3694 3725 4312 4313 4318 4780 4843 5265 55512 5743 5757 6347 6356 6440 6608 7040 7099 81037 9365 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	ALB APOC3 CD163 HLA-DRB1 HLA-DRB5 IFNG IL1RL1 IL2RA ITGB3	213 3123 3127 345 3458 3559 3690 9173 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)	Alliance of Genome Resources
DOID:10286	prostate carcinoma Aliases: cancer of prostate carcinoma of prostate	AKT2 ANGPT1 ATF4 AZGP1 BAD BAX BMP2 BMP4 CASP6 CDK13 CGA CHI3L1 CRKL EIF3H HDAC2 HDAC3 IGF1R INHA JUN MET MKI67 NME1 PDGFD PLK1 PRKCA SARS1 SKP2 SPINT1 SPP1 STAT3 STAT6 TMBIM6	1081 1116 1399 208 284 3066 3480 3623 3725 4233 4288 468 4830 5347 5578 563 572 581 6301 650 6502 652 6692 6696 6774 6778 7009 80310 839 8621 8667 8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:4001	ovarian carcinoma	AKT2 AMH BMP7 CABIN1 CASP6 CCR5 EDN1 HDAC3 IL13 KLK13 L1CAM MAP2K1 MAP2K6 MMP13 MUC16 NCOA4 NME2 PAK1 PRKCA PTK2 RHOA RHOC SIX1 TFF1 VEGFD	1234 1906 208 2277 23523 26085 268 3596 387 389 3897 4322 4831 5058 5578 5604 5608 5747 6495 655 7031 8031 839 8841 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 TP53 VEGFD	207 2277 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	AKT1 HLA-A HLA-DQB1 HLA-DRB1 MMP13 NOS3	207 3105 3119 3123 4322 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:607	paraplegia Aliases: Paraplegia, lower	AKT1 FOXO4 NOS2	207 4303 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	AKT1 CTNNA1 CYP1A1 CYP24A1 GPX3 IL10 IL1R2 IL5 LZTS1 MXI1 MYD88 PIK3CA PTEN TNFAIP3 XRCC1	11178 1495 1543 1591 207 2878 3567 3586 4601 4615 5290 5728 7128 7515 7850	Homo sapiens (human)	Alliance of Genome Resources

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