GlyCosmos Portal

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

Displaying entries **10401 - 10425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
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
DOID:0080911	cerebrooculofacioskeletal syndrome 1	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	OTUD7A TRPM1 TRPM3 TRPM6	140803 161725 4308 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:9120	amyloidosis Aliases: amyloid disease	ADIPOQ APCS CSF1 GOT1 SERPINE1 TNF TNFRSF1A TREM1 TTR	1435 2805 325 5054 54210 7124 7132 7276 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080689	mosaic variegated aneuploidy syndrome 3	TRIP13	9319	Homo sapiens (human)	Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112224	chondrodysplasia with joint dislocations gPAPP type Aliases: gPAPP deficiency	BPNT2	54928	Homo sapiens (human)	Alliance of Genome Resources
DOID:2272	vulvovaginal candidiasis Aliases: Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	AGT AGTR1 BAX CCL2 CCL5 CD40LG CD80 CLU CSF1 CSF1R CTLA4 CX3CL1 FCGR3A HLA-DPB1 HLA-DRB1 IL10 IL17A IL1RN IL4 ITGA4 MAPK14 MIF MMP12 MMP14 NOS2 PDCD1 SELP SLIT2 SYK TNF	1191 1432 1435 1436 1493 183 185 2214 3115 3123 3557 3565 3586 3605 3676 4282 4321 4323 4843 5133 581 6347 6352 6376 6403 6850 7124 9353 941 959	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:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	SLC29A3	55315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:1754	mitral valve stenosis Aliases: Mitral stenosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	SMARCD1	6602	Homo sapiens (human)	Alliance of Genome Resources
DOID:450	myotonic disease	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111044	gray platelet syndrome Aliases: BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4	NBEAL2	23218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ABCB1 ABCC2 ABL1 ACVR1B ADAM28 AGER AKT1 AKT3 ALB ARID1A ARPC5 ATM BAD BAG6 BAMBI BAX BCL11A BCORL1 BIRC2 BRCA1 BRD7 CA12 CA9 CALR CASP6 CASP7 CASP9 CBL CDH13 CDKN1B CHI3L1 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L CMPK1 CSF1R CUX1 CXCR4 CYP24A1 DDR1 DDR2 DNMT1 E2F1 EEF2 EGF EGFR EGR1 EIF4EBP1 EPAS1 ERBB3 ERCC5 ERCC6 ESR1 EZH2 FAP FAT1 FGF9 FGFR1 FGFR4 FH FOSL2 FOXA1 FOXL2 FOXP1 FRZB GPX1 GRP HDAC3 HIF1A HNRNPA1 HNRNPA2B1 HS3ST2 ICAM1 IDH2 IKZF2 IKZF3 IL1A IL1RN IL7 IL7R IRS4 ITGA9 ITGB1 ITGB3 JAK1 JUNB KAT2A KDM2A KDM3B KDM6A KDR KMT2C KMT2D L1CAM LAMB3 LAMC2 LEP LRP1B LTA LTF MAP2K4 MAP3K1 MET MIF MKI67 MLH1 MMP2 MMP9 MSH2 MYD88 NCOA2 NF1 NFKB1 NR3C1 NRP1 NSD2 NUF2 PBRM1 PDPK1 PECAM1 PLAU PLCG1 POLE PREX2 PRKAA1 PTEN PTGES PTGS2 PTPRB RARB RELA ROBO1 RRM1 RUNX1 RUNX2 RUNX3 SDHA SDHC SERPINF1 SFTPB SFTPD SLC3A2 SLC7A5 SMARCA4 SOX30 SPOP SPP1 STAT3 STAT5B STIM1 TAB2 TERT TET2 THBD TIMP3 TK1 TLR9 TNF TNFRSF1A TP53 TTR TYMP UBR5 UGT1A1 VEGFA XPO1 XPO5 XRCC1 ZFHX3	10000 10092 1012 1027 10499 10863 11063 1116 1136 1138 1139 1143 1244 1436 1523 1591 177 1786 1869 1890 1938 1950 1956 1958 1978 2034 2065 207 2073 2074 2099 213 2146 2191 2195 2254 2260 2264 2271 22806 22807 22992 23118 2355 2487 25 25805 2648 27086 2876 2908 29117 2922 3091 3169 3178 3181 329 3383 3418 3552 3557 3574 3575 3680 3688 3690 3716 3726 3791 3897 3914 3918 3952 4049 4057 4214 4233 4282 4288 4292 4313 4318 4436 4615 463 472 4763 4790 4921 51366 5170 51727 5175 5176 51780 5243 5328 53335 5335 53353 54106 5426 54658 54790 55193 5562 572 5728 5743 57510 5787 581 58508 5915 5970 6091 6240 63035 6389 6391 6416 6439 6441 6520 6597 668 6696 672 6774 6777 6786 7015 7056 7078 7083 7124 7132 7157 7276 7403 7422 7468 7514 7515 768 771 780 7852 7917 80243 8085 81037 811 8140 8289 83540 839 840 8405 842 8471 860 861 864 867 8829 8841 91 9536 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:14218	dihydropyrimidine dehydrogenase deficiency Aliases: Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea	DPYD	1806	Homo sapiens (human)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	ABO ANTXR1 CFL1 CLPTM1L GPX3 IL10 PTCH1 RAC1 TERT TGFA TJP1 TYMP UBR5	1072 1890 28 2878 3586 51366 5727 5879 7015 7039 7082 81037 84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies Aliases: NEDSID	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110454	dilated cardiomyopathy 1S Aliases: CMD1S	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	MLH1 MSH2	4292 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE	2582	Homo sapiens (human)	Alliance of Genome Resources

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