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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 **15176 - 15200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ANK1 EPB42 SLC4A1 SPTA1 SPTB	2038 286 6521 6708 6710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3 APOB	27329 338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050876	Caroli disease	ANGPT2	285	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ANGPT2 DLL4 EPO EPOR FLT1 HGF HLA-B HLA-DRB1 ICAM1 IGFBP3 IHH IL10 KDR NOS1 NOS2 NOS3 NOTCH1 SERPINE1 SERPINF1 SOD1 VEGFA	2056 2057 2321 285 3082 3106 3123 3383 3486 3549 3586 3791 4842 4843 4846 4851 5054 5176 54567 6647 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	ANGPT2 CCL2 CCN2 CCR6 CDKN1B CFB CFH CXCR1 EDN1 EP300 F5 FN1 MYOC PFN1 PRF1 SPARC TGFBR2 TSLP	1027 1235 1490 1906 2033 2153 2335 285 3075 3577 4653 5216 5551 629 6347 6678 7048 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 FLT4 PIEZO1 THSD1 TIE1 VEGFC	10203 2324 285 55901 7075 7424 9620 9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	ANGPT2 CAD	285 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ANGPT2 BICC1 C9 CD14 CFB EDN1 FLNC FOS GFER GPBAR1 IL1RN ITGA8 LATS1 LCN2 LRP2 LRP5 MMP1 MMP9 MTOR MYC NPHP3 PITX2 PKD1 PKD2 PKD2L1 PKD2L2 RPS6KB1 SERPING1 SLC34A1 SPP1 STAT6	151306 1906 2318 2353 2475 2671 27031 27039 285 3557 3934 4036 4041 4312 4318 4609 5308 5310 5311 6198 629 6569 6696 6778 710 735 80114 8516 9033 9113 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:4762	vasculogenic impotence	ANGPT2 APOD PDE5A TGFBR2	285 347 7048 8654	Homo sapiens (human)	Alliance of Genome Resources
DOID:299	adenocarcinoma	ANGPT2 APC LTA4H NOTCH1 NOTCH2 NOTCH3 PTGS2 SPHK1 STRAP TNNI3	11171 285 324 4048 4851 4853 4854 5743 7137 8877	Homo sapiens (human)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 F2 F7 HS3ST6 KNG1 MYOF PLG SERPING1	2147 2155 2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	ANGPT1 ANGPT2 ARID1A CD55 FOXO3 GPX3 KRAS PTGES TGFBR3 TP53	1604 2309 284 285 2878 3845 7049 7157 8289 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	ANGPT1 ANGPT2 ANXA1 APC APOA1 AREG BRD4 BSG CA9 CD44 CD82 CD9 CDKN1B CTNNA1 CTNNB1 CTSB CTSH DAXX EGFR ERBB2 ERBB3 ERBB4 FAS FASLG FGFR2 FGFR3 HRAS IGFBP3 KDR KISS1R KRAS MMP14 MMP15 MMP2 MSH2 NRAS OGG1 PAK1 PHB1 PLA2G4A PLAU POU5F1 PTGES PTGS2 RAD50 REL RELB SFN SKP2 SLC3A2 SLC7A5 SMAD4 SOX2 TERT TFF1 TFRC TIMP1 TP53 TYMP XPO5 XRCC1	10111 1027 1495 1499 1508 1512 1616 1890 1956 2064 2065 2066 2261 2263 23476 2810 284 285 301 324 3265 335 3486 355 356 3732 374 3791 3845 4089 4313 4323 4324 4436 4893 4968 5058 5245 5321 5328 5460 5743 57510 5966 5971 6502 6520 6657 682 7015 7031 7037 7076 7157 7515 768 8140 84634 928 9536 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ANAPC1 RECQL4	64682 9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GCSH GLDC SLC6A9	2653 2731 275 6536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060278	pontocerebellar hypoplasia type 9	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060264	pontocerebellar hypoplasia Aliases: PCH	AMPD2 TOE1	114034 271	Homo sapiens (human)	Alliance of Genome Resources
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	AMN SLC19A2	10560 81693	Homo sapiens (human)	Alliance of Genome Resources
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	AMHR2 FLT1 KIT MED12 TERT XRN2	22803 2321 269 3815 7015 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:4441	dysgerminoma	AMHR2 FGFR2 INHA KIT POU5F1 ST14	2263 269 3623 3815 5460 6768	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	AMH CTNNB1 FSHR KIT LHCGR MGMT PTGS2 ST14 VEGFA	1499 2492 268 3815 3973 4255 5743 6768 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	AMBRA1 COQ2 FAS IGF2 KLK6 SLC1A1 SLC6A6 SNCA	27235 3481 355 55626 5653 6505 6533 6622	Homo sapiens (human)	Alliance of Genome Resources

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