GlyCosmos Portal

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

Displaying entries **1951 - 1975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:2977	primary hyperoxaluria	AGXT APRT CRYL1 GLYCTK GRHPR H6PD HAO1 HAO2 HOGA1 SMUG1 SULT1E1 UGDH	112817 132158 189 23583 353 51084 51179 54363 6783 7358 9380 9563	Homo sapiens (human)
DOID:13725	beriberi	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)
DOID:0111350	Laurin-Sandrow syndrome Aliases: MIPduplication of fibuland ulna with absence of tibia and radius Sandrow syndrome TMIP miccor hands and feet with nasal defects mirror hands and feets-nasal defects syndrome mirror-image polydactyly tetramelic mirror-image polydactyly	AGXT COL9A2	1298 189	Homo sapiens (human)
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	AGXT CYP4F3 FIG4 GAS1 SPTLC1 SPTLC2 SPTLC3	10558 189 2619 4051 55304 9517 9896	Homo sapiens (human)
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	AGXT CYP4F3 GAS1 PKLR SPTLC1 SPTLC2	10558 189 2619 4051 5313 9517	Homo sapiens (human)
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	AGXT CYP4F3 GAS1 SPTLC1 SPTLC2	10558 189 2619 4051 9517	Homo sapiens (human)
DOID:4232	extraosseous Ewing sarcoma Aliases: extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraskeletal Ewing sarcom	AGXT LCT	189 3938	Homo sapiens (human)
DOID:4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor Aliases: extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour	AGXT LCT	189 3938	Homo sapiens (human)
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	AKR1A1 AKR1B10 AKR1C2 AMACR APRT B3GAT2 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST11 CYP17A1 CYP19A1 CYP1A1 DAD1 FASN FH FUT4 GOLPH3 GPX1 GPX2 GPX3 GPX7 HAS2 HPGDS HPSE ICAM1 ICAM2 KLRC1 KLRK1 LGALS9 MCAT MICA MPG MTAP OGG1 PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLB1 PLCE1 PTEN PTGES PTGS1 PTGS2 SI SLC35A2 SMUG1 SOAT1 STS TYMP UGT2B17 UGT8 VCAM1	100507436 1012 10327 1048 10855 1087 135152 142 151056 1543 1586 1588 1603 1604 1646 1890 2194 2271 22914 23583 23600 2526 27306 27349 2876 2877 2878 2882 3037 3383 3384 353 3821 3965 412 4350 4507 4680 4968 50515 51196 5277 5290 5291 5293 5294 5319 5321 57016 5728 5742 5743 64083 6476 6646 7355 7367 7368 7412 811 847 9536 960	Homo sapiens (human)
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	AKR1A1 AKR1B10 AKR1C2 AMACR APRT CALR CD55 CDH13 CEACAM5 CEACAM7 CYP19A1 CYP1A1 CYP24A1 FASN GHRL GPX3 GPX7 HPGDS ICAM1 LGALS9 MCAT MPG MTAP PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLB1 PLCE1 PTEN PTGES PTGS1 PTGS2 SLC35A2 SMUG1 STS TYMP UGT2B17 UGT8	1012 10327 1048 1087 142 151056 1543 1588 1591 1604 1646 1890 2194 23583 23600 27306 27349 2878 2882 3383 353 3965 412 4350 4507 51196 51738 5277 5290 5291 5293 5294 5319 5321 57016 5728 5742 5743 7355 7367 7368 811 9536	Homo sapiens (human)
DOID:11994	atrophy of testis	AKR1A1 ALDH2 CHST3 HMMR HPRT1	10327 217 3161 3251 9469	Homo sapiens (human)
DOID:5075	myxopapillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:5504	tanycytic ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:5505	papillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:5500	cellular ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:4844	benign ependymoma Aliases: WHO grade II Ependymal tumor epithelial ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:5509	childhood ependymoma	AKR1A1 ASAH1 CALR CD44 IDH1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10327 3417 3897 427 5290 5291 5293 5294 5728 811 960	Homo sapiens (human)
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	AKR1A1 CAT CBR1 CYP11B1 CYP11B2 CYP2B6 GML GPX1 ISYNA1	10327 1555 1584 1585 2765 2876 51477 847 873	Homo sapiens (human)

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