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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 **4251 - 4275** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:543	dystonia Aliases: dystonic disease	ATP2B4 BCHE TOR1A TOR1B TOR2A TOR3A	1861 27348 27433 493 590 64222	Homo sapiens (human)	Alliance of Genome Resources
DOID:5434	scrapie	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4 EIF2AK2 EIF2AK3 KCNK3	3777 468 5610 9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:5463	cochlear disease	IL6 SLC17A8 TNF	246213 3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:5485	synovial sarcoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	AZGP1 BCOR BRCA1 ERBB2 ERBB3 ERBB4 FGFR2 GRB7 KDM4C KMT2C KRAS MDC1 MMP1 MMP2 MMP9 MRE11 MUTYH PARP1 RNF43 SLC3A2 SPARC SPINT1 TNFAIP3 XPO1 XRCC1	142 2064 2065 2066 2263 23081 2886 3845 4312 4313 4318 4361 4595 54880 54894 563 58508 6520 6678 6692 672 7128 7514 7515 9656	Homo sapiens (human)	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACE ADRB2 ALB C3 C5 CCL11 CCL7 CCR7 CD14 CD163 CYP1A1 CYP2E1 DEFB1 EDN1 FCGR3A GRP ICAM1 IKBKB IL10 IL13 IL13RA2 IL1A IL1RN IL6 IRF5 ITGA4 ITGB2 MBL2 MIF MUC1 MUC2 REG3G SERPINE1 SFTPA1 SFTPB SFTPD SLC11A2 SOD3 TGFB1 TNC TNFRSF1B	1236 130120 154 1543 1571 1636 1672 1906 213 2214 28 2922 3371 3383 3551 3552 3557 3569 3586 3596 3598 3663 3676 3689 4153 4282 4582 4583 4891 5054 6354 6356 6439 6441 653509 6649 7040 7133 718 727 929 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	CDC73 CYP2C19 CYP2C9 DDR2 ERBB2 ERBB4 FANCB FGFR4 IL2 JUNB OGG1 PTPN13 SERPINE1 STAT3 TNFRSF10A TNFRSF10B	1557 1559 2064 2066 2187 2264 3558 3726 4921 4968 5054 5783 6774 79577 8795 8797	Homo sapiens (human)	Alliance of Genome Resources
DOID:5522	basaloid squamous cell carcinoma Aliases: Basaloid carcinoma	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABCC3 ADRB2 AMN APOL1 APOL3 BMP7 CASP9 CCL2 CCL5 CDC42 COL4A1 CTLA4 CUBN F7 FGR G6PD GBA3 HAVCR1 HCK HNF1A KAT2A KAT2B KIRREL1 KIRREL2 KL KLB LCN2 LCT LCTL LIPC MIF MKI67 MLXIPL MMP9 MYH9 NFATC1 NPHS1 PALS1 PPP3CA RAC1 RAC2 RAC3 RAMP2 RELB SRC SREBF1 SREBF2 STOM TGFBI TGFBR1 TGFBR2 TNF TNFRSF1A TRPC6 UMOD VPS33B XYLT1	10266 1282 1493 152831 154 197021 2040 2155 2268 2539 26276 2648 26762 3055 3934 3938 3990 4282 4288 4318 4627 4772 4868 51085 55243 5530 57733 5879 5880 5881 5971 6347 6352 64131 64398 655 6714 6720 6721 6927 7045 7046 7048 7124 7132 7225 7369 8029 80833 81693 84063 842 8542 8714 8850 9365 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:5572	Beckwith-Wiedemann syndrome	SPTBN1	6711	Homo sapiens (human)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	IGF1R MET MGMT SLC2A2	3480 4233 4255 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:5585	Ferguson-Smith tumor Aliases: Multiple self-healing epithelioma of Ferguson-Smith	TGFBR1	7046	Homo sapiens (human)	Alliance of Genome Resources
DOID:559	acute pyelonephritis	CXCR2 RBP4	3579 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	CNTN2	6900	Homo sapiens (human)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	AKR1C3 CARD11 CXCR4 JAK1 JAK3 NBN NUP98 PDGFRA	3716 3718 4683 4928 5156 7852 84433 8644	Homo sapiens (human)	Alliance of Genome Resources
DOID:5614	eye disease	COL2A1 EYA3 EYA4 F2 MYRF RP1L1 TLR2 TLR3 TLR4 TNF	1280 2070 2140 2147 7097 7098 7099 7124 745 94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:5627	adenosquamous gallbladder carcinoma Aliases: Adenosquamous carcinoma of the gallbladder	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:5637	pancreatic adenosquamous carcinoma Aliases: Adenosquamous carcinoma of pancreas	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:5679	retinal disease	APOE AQP4 CAT CEPT1 CHPT1 GFAP GRK1 IL10 MAP2K3 PISD PLCB4 PRPH2 THY1	10390 23761 2670 348 3586 361 5332 5606 56994 5961 6011 7070 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	BRCA1 BRCA2 PALB2 RAD51C	5889 672 675 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type Aliases: Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia	TONSL	4796	Homo sapiens (human)	Alliance of Genome Resources
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	BLM LMNA	4000 641	Homo sapiens (human)	Alliance of Genome Resources

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