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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 **11151 - 11175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3650	lactic acidosis	DLAT PYGL	1737 5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GEMIN5	25929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060019	coronin-1A deficiency	CORO1A	11151	Homo sapiens (human)	Alliance of Genome Resources
DOID:9775	diastolic heart failure	ACE LEPR	1636 3953	Homo sapiens (human)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	SDHB TYMP VARS1	1890 6390 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060757	sclerosteosis 2 Aliases: SOST2	LRP4	4038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10	EMILIN1	11117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	DCC NTN1	1630 9423	Homo sapiens (human)	Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 KCNQ2 KCNQ3	3785 3786 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	ADCY3 APOA1 APOA4 ARRB1 BDNF CHRM2 CHRNB3 CNTNAP2 CRTC1 CTNND2 EIF4B FOXP2 HSPA1A HSPA1L HTR1B HTR2A HTR2C IL10 IL3 IL5 IL6 MC1R MED12 NOS1 NR3C1 NRG1 NTRK2 PAWR PTEN SLC5A7 SLC6A4 SYN1	109 1129 1142 1501 1975 23373 26047 2908 3084 3303 3305 335 3351 3356 3358 337 3562 3567 3569 3586 408 4157 4842 4915 5074 5728 60482 627 6532 6853 93986 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Aliases: JP-HHT	SMAD4	4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11 Aliases: CMH11 cardiomyopathy familial hypertrophic 11	ACTB ACTC1	60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	SELENON	57190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081135	agammaglobulinemia 2	IGLL1	3543	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	UQCRC2	7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ADIPOQ AGER BTNL2 CCR2 CCR5 CD40 CD40LG CLU FLT1 HMGB1 HP HSPA1A HSPA1L MBL2 MMP9 NPPB SELP TIMP1 TLR4 TNF VEGFA	1191 1234 177 2321 3146 3240 3303 3305 4153 4318 4879 56244 6403 7076 7099 7124 729230 7422 9370 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111592	plasminogen deficiency type I Aliases: hypoplasminogenemia	PLG	5340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	APOE BDNF BST2 CAST CCR5 CCR7 CD40LG CTLA4 CYP19A1 CYP1A1 E2F1 FAS GDNF HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPH1 ICAM1 IFNG IL10 IL13 IL1RN IL23R IL2 IL2RA IL4 IL6 LTA MMP3 MMP9 MUC16 MUC19 MUC5AC NEFL PON1 REG1A SATB1 SELP ST14 STAT4 TGFB1 THBS1 TNF TNFSF13B TRAF3IP2 VIM	10673 10758 1234 1236 149233 1493 1543 1588 1869 2668 283463 3117 3119 3123 3187 3383 3458 348 355 3557 3558 3559 3565 3569 3586 3596 4049 4314 4318 4586 4747 5444 5967 627 6304 6403 6768 6775 684 7040 7057 7124 7431 831 94025 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	MARK2 MARK3	2011 4140	Homo sapiens (human)	Alliance of Genome Resources
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ABCB1 ADAMTS1 AGER AKAP12 AKAP1 AKT1 ALOX15 ALOX5 ANGPT1 ANGPT2 ANXA1 APEX1 AQP3 AQP4 AQP5 AQP8 BAD BMP6 BTG2 C3 CASP6 CAST CAT CCL2 CCR5 CDK5 CLU CP CREB1 CSF2RB CSF3 CSPG4 CTSB CTSC CTSL CTSV DBH DPYSL2 DRD2 EDN1 EPOR F2R FAS FASLG FGA GAL GC GFRA1 GLUD1 GLUD2 HIF1A HSPA1B HSPA8 HSPA9 IL17A IL6ST IRAK1 IRAK4 ITGAM KCNK10 KCNK2 KDR LGALS3 LIF LONP1 MAP2 MAPT MDH2 MDK MMP13 MMP14 MMP2 MMP9 MSI1 NES NOS1 NOS3 NPPA NPTXR NR3C1 OPRM1 PAK1 PCNA PGF PLA2G4A PLAT PPP1R15A PRKACB PRKCA PROZ PTGIS PTGS1 PTGS2 RET SCN5A SELE SERPINE1 SLC11A2 SLC29A1 SLC6A1 SLC8A1 SLC8A2 SLC8A3 SOS1 SRC TEK TGFB1 TJP1 TLR4 TNFRSF1A TTR	1020 1075 10763 1191 1234 1356 1385 1439 1440 1464 1508 1514 1515 1621 177 1808 1813 1906 2030 2057 207 2149 2243 23467 23645 240 246 2638 2674 2746 2747 284 285 2908 301 3091 328 3304 3312 3313 343 355 356 3572 360 3605 361 362 3654 3684 3776 3791 3958 3976 4133 4137 4191 4192 4313 4318 4322 4323 4440 4842 4846 4878 4891 4988 5054 5058 51083 5111 51135 5228 5243 5321 5327 54207 5567 5578 572 5740 5742 5743 5979 6331 6347 6401 6529 654 6543 6546 6547 6654 6714 7010 7040 7082 7099 7132 718 7276 7832 8165 831 839 847 8858 9361 9510 9590	Homo sapiens (human)	Alliance of Genome Resources

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