GlyCosmos Portal

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

Displaying entries **11276 - 11300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3783	Coffin-Lowry syndrome	RPS6KA1 RPS6KA3	6195 6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	STRAP	11171	Homo sapiens (human)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	CHI3L1 COL2A1 EXT1 FGFR3 MTOR	1116 1280 2131 2261 2475	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	CACNA1S	779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070425	combined oxidative phosphorylation deficiency 52 Aliases: COXPD52	NFS1	9054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080119	mitochondrial DNA depletion syndrome 1 Aliases: mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related	TYMP	1890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070208	hereditary lymphedema IC Aliases: LMPH1C	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050868	hepatocellular adenoma	A2M CYP2E1 HNF1A HP HPR KRAS PTPN11	1571 2 3240 3250 3845 5781 6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:10892	hypospadias Aliases: familial hypospadias	AR CYP1A1 FGF10 FGF8 FGFR2 FOS GLI3 HOXD13 HSD3B2 MAMLD1 SRD5A2	10046 1543 2253 2255 2263 2353 2737 3239 3284 367 6716	Homo sapiens (human)	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ACAN ACE2 ACE ADAM17 ADIPOQ ADM ADRA2C ADRB1 ADRB2 ADRB3 AGER AGT AGTR1 AGTR2 ALB ALOX12 ALOX15 AOC3 APOA1 APOE ARRB1 BAX CALR CASQ2 CAT CBL CCL2 CCN1 CCR2 CD40LG CHEK2 CHI3L1 CHRM4 CHRNA4 CORIN CREB1 CS CXCR4 CYP11B1 CYP1A2 DDR1 DNMT1 DYRK1A ECE1 EDN1 ENG EP300 EPO ERBB2 ERBB4 EYA4 EZH2 FADS1 FADS2 FAS FASLG FOS FOXC1 FOXO1 FOXP1 FOXP4 FTH1 FTO GNB1 GP6 GRK1 GRK3 GRP HIF1A HMGB1 HP HPR HSF1 HTR2A HTR2B IL10 IL17A IL6 IL6R INHBA KCNE1 KCNK2 LEPR LGALS3 LIF LTBP2 MAS1 MDH2 MED1 MME MMP13 MMP14 MMP1 MMP2 MMP3 MMP8 MMP9 MSTN MTOR MYH7 NCAM1 NFE2L2 NGFR NME2 NOS1 NOS3 NPPA NPPB NPTXR NR3C1 OGT OPA1 OPRK1 P2RX4 PARP1 PGF PHF6 PLA2G7 PLCD1 PLD2 POSTN PPARGC1A PPP1CC PRKCA PTGIS RAC1 RAMP2 RAPGEF3 RBM10 RBP4 REN RRAD RYR1 RYR2 SCN5A SCN8A SELP SIRT3 SLC22A5 SLC2A4 SLC6A4 SLC8A1 SLC9A1 SMC1A SOD2 SOX2 SRA1 SRF TIMP1 TNF TNFRSF11B TNFRSF1B TREM1 UCP2 UCP3 YY1	10011 10266 10411 10631 10699 10891 1116 11200 1132 1137 116113 133 1385 142 1431 152 153 154 1544 155 157 1584 1636 176 177 1786 183 185 1859 186 1889 1906 2022 2033 2056 2064 2066 2070 213 2146 2296 2308 23410 23467 2353 239 246 2475 2495 2660 27086 2782 2908 2922 3091 3146 3240 3250 3297 335 3356 3357 348 3491 355 356 3569 3570 3586 3605 3624 3753 3776 3953 3958 3976 3992 4053 408 4142 4191 4311 4312 4313 4314 4317 4318 4322 4323 4625 4684 4780 4804 4831 4842 4846 4878 4879 4976 4982 4986 5025 51206 5228 5333 5338 54210 5469 5501 5578 5740 581 5879 59272 5950 5972 6011 6236 6261 6262 6331 6334 6347 6403 6517 6532 6546 6548 6584 6648 6657 6722 6868 7076 7124 7133 729230 7351 7352 7528 780 7852 79068 7941 811 8241 8243 84295 845 847 8473 8639 867 9370 9415 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	SMARCB1 VEGFA	6598 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	THBD	7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	MYC PKD1	4609 5310	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:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	DHCR7	1717	Homo sapiens (human)	Alliance of Genome Resources
DOID:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	CCN2 DES MAP2K3 MAP2K6 MYH15 MYH1 MYH7 MYPN SCD5 SCD TNNI3	1490 1674 22989 4619 4625 5606 5608 6319 7137 79966 84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:2490	congenital nervous system abnormality Aliases: congenital neurologic anomaly	TUBA1A	7846	Homo sapiens (human)	Alliance of Genome Resources
DOID:77	gastrointestinal system disease Aliases: GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder	AGER IGF2 MECP2 TF VCAM1	177 3481 4204 7018 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)	Alliance of Genome Resources
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	LRPPRC ND3 ND5 SDHA SDHC SOD2 SURF1	10128 4537 4540 6389 6391 6648 6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:4376	milk allergy Aliases: milk allergic reaction	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	HFE HSPD1 IL10 TGFB1	3077 3329 3586 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080687	reducing body myopathy 1B	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050448	white sponge nevus Aliases: hereditary mucosal leukokeratosis white sponge nevus of Cannon	KRT13	3860	Homo sapiens (human)	Alliance of Genome Resources

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