GlyCosmos Portal

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Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4201 - 4225** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060391	chromosome 13q14 deletion syndrome Aliases: deletion 13q14	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060390	distal 10q deletion syndrome Aliases: chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060389	chromosome 10q23 deletion syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)
DOID:0060380	orofaciodigital syndrome X Aliases: OFD10 orofaciodigital syndrome with fibular aplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060378	orofaciodigital syndrome VIII Aliases: OFD8	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:0060368	Parkinson's disease 2 Aliases: autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2	CNTN5 CNTN6 GBA1 PARP1 SYNJ1	142 2629 27255 53942 8867	Homo sapiens (human)
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)
DOID:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:0060357	chylomicron retention disease Aliases: Anderson disease CMRD	AGA AMT ARSA ARSB ASAH1 CHIT1 CTSA CYP27A1 DGAT1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GPIHBP1 GUSB ICAM1 IDS IDUA LCAT LGALS3 LPL LSS MANBA MGAM NAGA NAGPA NT5E OGA PNPLA2 PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 UGCG UGT1A1 UMOD VCAM1	10724 1118 1593 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 275 2990 3383 338328 3423 3425 3931 3958 4023 4047 410 411 4126 427 4668 4907 51172 54658 5476 57104 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 84572 8694 8972 9415	Homo sapiens (human)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT DLD GALNS UMOD	1738 2588 353 7369	Homo sapiens (human)
DOID:0060346	Native American myopathy Aliases: Bailey-Bloch congenital myopathy congenital myopathy 13	G6PD	2539	Homo sapiens (human)
DOID:0060345	bacillary angiomatosis	CS	1431	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	PI4KA	5297	Homo sapiens (human)
DOID:0060336	3-methylglutaconic aciduria	ACADSB AGK DHCR7 ECHS1	1717 1892 36 55750	Homo sapiens (human)
DOID:0060334	transient neonatal diabetes mellitus	AGPAT2 ASAH1 GCK PDHX SLC2A2	10555 2645 427 6514 8050	Homo sapiens (human)
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)
DOID:0060327	omphalocele Aliases: omphalocoele	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)
DOID:0060326	myelomeningocele	ABO ACHE ARSA CD38 CHKA COMT FOLR1 FOLR2 GPC5 HK1 ISYNA1 ITPK1 PCYT1A SLC2A1 SLC2A2 SLC2A3 UGCG	1119 1312 2262 2348 2350 28 3098 3705 410 43 5130 51477 6513 6514 6515 7357 952	Homo sapiens (human)
DOID:0060322	mastoiditis	NT5E TLR2 TLR4	4907 7097 7099	Homo sapiens (human)
DOID:0060321	umbilical hernia	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)

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