GlyCosmos Portal

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

Displaying entries **326 - 350** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	MFRP PRPH2 RDH5 RHO RLBP1	5959 5961 6010 6017 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1	COL1A1	1277	Homo sapiens (human)	Alliance of Genome Resources
DOID:4195	hyperglycemia	ADRB1 AKR1B1 AVP CBL CCL11 CYP11A1 CYP2C9 DRD1 EPAS1 F2 F7 GCK GIPR GLP1R GPX1 HCRTR2 HK2 HK3 HKDC1 HP HRH3 HSPD1 HSPG2 HTR2A ICAM1 IL1A IL1RN IL6 ITGAM ITGAV LDHA LEPR MMP9 PCSK1 PDX1 PKLR PLA2G4A PON1 PPARGC1A PRNP PTCH1 SDC1 SOD1 TF TSHB	10891 11255 153 1559 1583 1812 2034 2147 2155 231 2645 2696 2740 2876 3062 3099 3101 3240 3329 3339 3356 3383 3552 3557 3569 3651 3684 3685 3939 3953 4318 5122 5313 5321 5444 551 5621 5727 6356 6382 6647 7018 7252 80201 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080260	autosomal recessive spinocerebellar ataxia 26 Aliases: SCAR26	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080475	psoriasis 2	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:61	mitral valve disease Aliases: Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence	ACE	1636	Homo sapiens (human)	Alliance of Genome Resources
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	ADM BTC CUX1 INS NCAM1 SLC2A2 TGFA TGFB1	133 1523 3630 4684 6514 685 7039 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	APOC3 APOE	345 348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	PRPH2	5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080599	Coronavirus infectious disease	ACE CCR1 CCR2 CCR5 CD209 EGFR MBL2 MUC4 MYD88 SERPINE1 SFTPD	1230 1234 1636 1956 30835 4153 4585 4615 5054 6441 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080413	developmental and epileptic encephalopathy 18 Aliases: DEE18 early infantile epileptic encephalopathy 18	SZT2	23334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111735	X-linked deafness 4 Aliases: DFN6 DFNX4 X-linked progressive deafness 6 nonsyndromic sensorineural progressive deafness 6	SMPX	23676	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ	285203 3516 4851 54567 57514 57572	Homo sapiens (human)	Alliance of Genome Resources
DOID:2231	factor XII deficiency Aliases: Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080394	nephrotic syndrome type 19	NUP160	23279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081140	agammaglobulinemia 8A	TCF3	6929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070271	Lynch syndrome 1 Aliases: FCC1 HNPCC1 familial nonpolyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1	MSH2	4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080016	spina bifida	APEX1 GLI1 GLI2 MTHFD1 MTR PTCH1 RNF2 SUZ12	23512 2735 2736 328 4522 4548 5727 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111474	combined oxidative phosphorylation deficiency 1 Aliases: COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GFM1	85476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080242	syndromic X-linked mental retardation Hough type	CNKSR2	22866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	ACTR2 AGER AKAP12 ANTXR1 BMI1 BRCA1 BRCA2 BRD7 CA12 CALU CAT CD59 CHI3L1 CSF1R CXCR4 EFNB2 ERCC6 EZH2 FUBP1 GPX2 GPX3 IL2 IL6 ITGB3 MAPK14 MBD4 MSH6 MYD88 NCOA2 NF1 PHF6 PIK3CA PTPRB RAC1 SELENOP SMAD4 SMARCC1 SRC STAT3 STRAP TP53 XPO1 XRCC1	10097 10499 1116 11171 1432 1436 177 1948 2074 2146 2877 2878 29117 2956 3558 3569 3690 4089 4615 4763 5290 5787 5879 6414 648 6599 6714 672 675 6774 7157 7514 7515 771 7852 813 84168 84295 847 8880 8930 9590 966	Homo sapiens (human)	Alliance of Genome Resources

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