GlyCosmos Portal

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

Displaying entries **7226 - 7250** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	ACE ALDH1A3 ALG9 APRT ARF4 B3GLCT CALR COMT CPT2 CYP4A11 DHCR7 GANAB GLA GPC3 INPP5E PGD PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKCSH PTGDS PTGS1 PTGS2 SELE SMC3 XYLT2	114780 1312 1376 145173 1579 1636 1717 220 23193 23556 2717 2719 342372 353 378 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5589 56623 5730 5742 5743 6401 64132 79796 811 9126	Homo sapiens (human)
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	ACE ALG8 ALG9 ARF4 HJV PKD1 PKD2 UMOD	148738 1636 378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	ACSS2 AMY1A AMY1B AMY1C APRT ENPP1 PLA2G15 SUCLG1	23659 276 277 278 353 5167 55902 8802	Homo sapiens (human)
DOID:0060245	Mast syndrome Aliases: SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	CEACAM5 FASN IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 3418 4360 51763 5290 5728 5743 7412 8930 9536	Homo sapiens (human)
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:0060651	MYH-9 related disease	ABO PNPLA6 PRNP	10908 28 5621	Homo sapiens (human)
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:310	MERRF syndrome Aliases: Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers	CLN5 EPM2A	1203 7957	Homo sapiens (human)
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	FH PNP SDHB SORD	2271 4860 6390 6652	Homo sapiens (human)
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	B4GALNT1 CANX CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 821 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ARSA ARSI BAAT CD44 CEACAM5 CEACAM7 COMT CYP17A1 CYP1A1 CYP1B1 IGF2R MRC1 MUTYH NDUFAB1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	1048 1087 1312 142 1543 1545 1586 340075 3482 410 4360 4595 4706 5290 5291 5293 5294 570 5728 5743 960	Homo sapiens (human)
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	ACAN ALOX5 CALR CANX CD14 CD38 CD48 DAG1 DCN ENO1 ENO2 FCN2 FOLR2 GOLPH3 HACD1 HK1 HPGDS MBL2 PLAUR PTGES3 PTGS1 PTGS2 VCAM1	10728 1605 1634 176 2023 2026 2220 2350 240 27306 3098 4153 5329 5742 5743 64083 7412 811 821 9200 929 952 962	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:0050466	Loeys-Dietz syndrome	IDUA SLC2A10	3425 81031	Homo sapiens (human)
DOID:9503	Loeffler syndrome Aliases: Loeffler's pneumonia Loffler's syndrome	ALPL CEL CHI3L1 HPGDS IL1R1 IL1RL1 ISYNA1 PARP9 PTGDS SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 27306 3554 51477 5730 83666 9173	Homo sapiens (human)

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