GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5526 - 5550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	APRT CALR DPAGT1 GNPTAB GNPTG GUSB IDUA IGF2R NAGPA OGA PLCD1 PLCG1	10724 1798 2990 3425 3482 353 51172 5333 5335 79158 811 84572	Homo sapiens (human)
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	APRT CALR CHIT1 CTSA CYP21A2 DHCR7 DPAGT1 FUCA2 GLB1 GNPTAB GNPTG GUSB HEXA HPRT1 IDS IDUA IGF2R NAGPA NEU1 OGA PLCD1 PLCG1	10724 1118 1589 1717 1798 2519 2720 2990 3073 3251 3423 3425 3482 353 4758 51172 5333 5335 5476 79158 811 84572	Homo sapiens (human)
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110221	Brugada syndrome 4 Aliases: BRGDA4	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110226	Brugada syndrome 9 Aliases: BRGDA9	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0080031	fibrous dysplasia	APRT B3GAT1 PTGS2 SMUG1	23583 27087 353 5743	Homo sapiens (human)
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	APRT ASAH1 CBR3 CD177 CD44 CDH13 CEACAM5 CEACAM7 CEMIP CYP24A1 CYP27B1 EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SDHD SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1591 1594 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 427 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 57126 5716 57214 5728 5743 5973 6120 6392 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:8622	measles Aliases: morbilli	APRT ASAH1 CANX CCDC115 CEACAM5 FOLR2 GLB1 HPRT1 IL18R1 MRC1	1048 2350 2720 3251 353 427 4360 821 84317 8809	Homo sapiens (human)
DOID:13087	Lown-Ganong-Levine syndrome Aliases: atrial tachyarrhythmia with short PR interval syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2	2215 27087 353 414 5563 6900	Homo sapiens (human)
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	APRT ARSD B3GAT1 CNTN2 FCGR3B PRKAA2 PRKAG2 PRKAG3	2215 27087 353 414 51422 53632 5563 6900	Homo sapiens (human)
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	APRT ARSB GALNS GLB1 IDS IDUA NAGLU ST3GAL1 ST3GAL2 ST3GAL4 SUMF1	2588 2720 285362 3423 3425 353 411 4669 6482 6483 6484	Homo sapiens (human)
DOID:4762	vasculogenic impotence	APOD	347	Homo sapiens (human)
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	APEX1 GPX3 RBP4	2878 328 5950	Homo sapiens (human)
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)
DOID:0050648	atelosteogenesis	ANXA5 PARP1 SLC26A2	142 1836 308	Homo sapiens (human)
DOID:496	spindle cell hemangioma Aliases: SCH	ANXA5 IDH1 IDH2 PRKAA2 PTGS1 PTGS2	308 3417 3418 5563 5742 5743	Homo sapiens (human)

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