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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **4526 - 4550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKA2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5256 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0110029	alpha thalassemia-intellectual disability syndrome type 1 Aliases: ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1	COL9A2 G6PD PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:14271	acute cholangitis	CAT	847	Homo sapiens (human)
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	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:0110253	cataract 14 multiple types Aliases: CTRCT14	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)
DOID:4463	multilocular clear cell renal cell carcinoma Aliases: cystadenocarcinoma of kidney renal cystadenocarcinoma	PTEN	5728	Homo sapiens (human)
DOID:1627	intraductal papilloma Aliases: ductal papilloma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:13800	inclusion conjunctivitis Aliases: Chlamydial conjunctivitis Inclusion blennorrhoea adult inclusion conjunctivitis inclusion blenorrhea	CALR PTGS2 SMUG1	23583 5743 811	Homo sapiens (human)
DOID:10127	cerebral artery occlusion	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)
DOID:6676	Froelich syndrome Aliases: Babinski-Froelich syndrome Froehlich syndrome Froehlich's syndrome Froelich's syndrome adiposogenital syndrome	CYP17A1	1586	Homo sapiens (human)
DOID:1407	anterior uveitis	LACC1 TLR2 TLR4 TNF	144811 7097 7099 7124	Homo sapiens (human)
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	CD44 G6PD LMAN1 MAN2A1 MCFD2 MGAT2	2539 3998 4124 4247 90411 960	Homo sapiens (human)
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ACE ALG8 ALG9 APRT ARF4 B3GLCT CALR CD14 COMT CPT2 CYP4A11 DCN DHCR7 GANAB GLA GPC3 HAGH INPP5E KL LGALS3 LRP5 PGD PGP PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKAA2 PRKCSH PTGS1 PTGS2 SELE SEMA7A SMC3 SMUG1 SOAT1 UMOD XYLT2	114780 1312 1376 145173 1579 1634 1636 1717 23193 23556 23583 2717 2719 283871 3029 342372 353 378 3958 4041 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5563 5589 56623 5742 5743 6401 64132 6646 7369 79053 79796 811 8482 9126 929 9365	Homo sapiens (human)
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	PTEN	5728	Homo sapiens (human)
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	ACADL ACADM ACADSB ACADVL ACAT1 ACE ACSF3 AGL AKT2 ALDOB APRT BCKDHA BCKDHB CHAT CHGA CHPT1 COG7 COG8 CPT1A CPT1C CPT2 CRYL1 CYP21A2 CYP2C8 CYP2C9 DBT DHDDS DLD ENO1 ENO2 FBP1 G6PC1 GALT GCDH GCK GK GLA GPC3 GYS1 GYS2 H6PD HADH HADHA HK1 HMGCL HMGCS2 IDS KHK KL LGALS1 LPL MGAM MLYCD MPI PC PCCA PCCB PCK1 PCK2 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PRKAA2 PTEN PYGL SELP SGPL1 SI SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC35A2 SLC37A4 SLC3A1 SLC5A1 ST3GAL4 SUCLG1 TIGAR UGDH VCAM1	1103 1113 126129 1374 1376 1558 1559 1589 1629 1636 1738 178 197322 2023 2026 208 2203 229 23417 2538 2542 2592 2639 2645 2710 2717 2719 2997 2998 3030 3033 3098 3155 3158 33 34 3423 353 36 37 3795 38 3956 4023 4351 5091 5095 5096 5105 5106 51084 51548 5209 5236 5290 5291 5293 5294 5506 5563 56994 57103 5728 5836 593 594 6403 6476 6484 6514 6515 6517 6519 6523 7355 7358 7412 79947 84342 8802 8879 8972 91949 9365 9563	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:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	ICAM1	3383	Homo sapiens (human)
DOID:4210	clear cell meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:350	mastocytosis Aliases: mast cell hyperplasia	ACLY CALR CD33 CD38 CD44 CD72 CEL DHCR24 DLD ENOSF1 ENPP3 ETNK1 FCER2 FH GPX1 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2E PTGS2 SMPD1	1056 1718 1738 2208 2271 27349 2876 30814 3339 3383 3418 47 5169 5290 5291 5293 5294 55500 55556 5743 6609 811 945 952 960 9653 971	Homo sapiens (human)
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)

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