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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 **3901 - 3925** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:374	nutrition disease Aliases: Nutritional disorder	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:3742	bladder squamous cell carcinoma Aliases: Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	ADAR BAX BIRC2 CCR4 CD82 CSF1R FGF7 FGFR3 FOS PDPN TMBIM6 TNFRSF4 TNFSF4 TP53 TYMP	103 10630 1233 1436 1890 2252 2261 2353 329 3732 581 7009 7157 7292 7293	Homo sapiens (human)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	AKT1 ATM AZGP1 BMI1 BMP6 BRCA1 BRCA2 BST2 CA12 CALR CBX8 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COL14A1 CXCR4 CYP1A1 CYP1B1 CYP24A1 DCC DPP4 EFNB2 EGFR EHMT1 EHMT2 EPB41L3 EPHB4 ERBB4 EZH2 FAP FAT1 FGFR4 FOXA1 FUBP1 GPX3 GRB7 IDH2 JUNB KAT2B KDM4C KDM5B KDM6A KMT2C KMT2D KRT7 LZTS1 MAP3K1 MBD4 MGMT MLH1 MMP14 MMP2 MMP9 MSH2 PAGR1 PTCH1 PTPRT RICTOR RUNX1 RUNX2 RUNX3 SETD5 SLC1A5 SLC7A5 SPEN TAP1 TERT TET2 TET3 TGFBR2 TNFAIP3 TP53 XPO1 XRCC1	10765 10919 11122 11178 1138 1139 1143 1543 1545 1591 1630 1803 1948 1956 200424 2050 2066 207 2146 2191 2195 2264 23013 23081 23136 253260 2878 2886 3169 3418 3726 3855 4214 4255 4292 4313 4318 4323 4436 472 54790 55209 563 5727 57332 58508 648 6510 654 672 675 684 6890 7015 7048 7128 7157 7373 7403 7514 7515 771 7852 79447 79813 8085 81037 811 8140 860 861 864 8850 8880 8930	Homo sapiens (human)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	AP3B1 CCL5 CXCR4 DTNBP1 SLC7A11	23657 6352 7852 84062 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	SERPINC1	462	Homo sapiens (human)	Alliance of Genome Resources
DOID:3756	protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 COX4I2	4512 84701	Homo sapiens (human)	Alliance of Genome Resources
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE AGER AGT ALOX5 ANXA1 AP3B1 B3GAT1 BAD BDKRB1 BDNF CAT CCL11 CCL2 CCN2 CCR4 CCR5 CD36 CDH1 CHI3L1 CHRM3 COL1A1 COL1A2 CSF2 CYSLTR1 DEFB1 DNM1L EDN1 EGFR EGR1 ELANE HABP2 HGF HSP90AB1 HSPD1 ICAM1 IGFBP3 IGFBP5 IL13 IL15 IL17A IL18R1 IL1A IL1RN IL4 JAG1 MBL2 MMP1 MMP9 MUC5AC NFE2L2 NGF NOTCH1 PDGFRA PLAU PTGS2 SERPINE1 SFTPA1 SFTPB SFTPC SMAD4 STAT1 TFPI TGFB1 TGFBR2 TIMP1 TLR9 TNF TWIST1 VWF	10059 10800 1116 1131 1233 1234 1277 1278 1437 1490 1636 1672 177 182 183 1906 1956 1958 1991 240 27087 301 3026 3082 3326 3329 3383 3486 3488 3552 3557 3565 3596 3600 3605 4089 4153 4312 4318 4586 4780 4803 4851 5054 5156 5328 54106 572 5743 623 627 6347 6356 6439 6440 653509 6772 7035 7040 7048 7076 7124 7291 7450 847 8546 8809 948 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:3774	chordoid glioma Aliases: Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle third ventricle chordoid glioma	PRKCA	5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	RPS6KA1 RPS6KA3	6195 6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	PLAU TNC TREM1	3371 5328 54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS MVD MVK	2224 4597 4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:381	arthropathy Aliases: Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE AGTR2 ALDH1A2 ATP7A BMP4 CBL ELN EP300 FREM1 GATA4 HTR2A IGF2 IGFBP3 IGFBP5 LCN2 LRP1 MYRF NDST1 NOS3 NR2F2 PDGFRA PLS3 SFTPA1 SFTPA2 SFTPB SLC6A4 SLIT2 SLIT3 SOD1 SOD2 SOX7 TNF VEGFA	158326 1636 186 2006 2033 2626 3340 3356 3481 3486 3488 3934 4035 4846 5156 5358 538 6439 652 6532 653509 6586 6647 6648 7026 7124 729238 7422 745 83595 867 8854 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	AVPR1B CDKN1B SDHA	1027 553 6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	BMPR1A MAP3K7 PRKAG2 PRKAG3	51422 53632 657 6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	DDX3X DDX3Y	1654 8653	Homo sapiens (human)	Alliance of Genome Resources
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:3877	functional colonic disease	CRHR1 CRHR2 LINC02210-CRHR1	104909134 1394 1395	Homo sapiens (human)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ACVR2A CA12 CA9 E2F4 KRAS MARCKS MLH1 MRE11 MSH2 MSH6 PMS1 RNASEL RNASET2 SLC22A9 SMAD4 TCF4 TGFBR1 TGFBR2	114571 1874 2956 3845 4082 4089 4292 4361 4436 5378 6041 6925 7046 7048 768 771 8635 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:3891	placental insufficiency	AGTR1 CYP19A1 EMP2 EPO GRIN1 GRIN2A GRIN2B ITGA2 PDX1 PPARGC1A SERPINE1	10891 1588 185 2013 2056 2902 2903 2904 3651 3673 5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	ADM BTC CUX1 INS NCAM1 SLC2A2 TGFA TGFB1	133 1523 3630 4684 6514 685 7039 7040	Homo sapiens (human)	Alliance of Genome Resources

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