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 **5951 - 5975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:77	gastrointestinal system disease Aliases: GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB IGF2 LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS VCAM1	100507436 1048 10724 1087 142 1636 2538 2813 2990 3481 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 7412 79053 847 8694 960 9663	Homo sapiens (human)
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	Eno Gapdh1 Gapdh2 N Parp1 Pepck1 Tl se sgg	31248 31293 32545 33351 3355109 35728 37131 38973 43222	Drosophila melanogaster (fruit fly)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2	35105 35137 35138 35139 37420 40079 41334 41573 41574 42538 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	COMT CYP2E1 DGAT1 MAG PRNP	1312 1571 4099 5621 8694	Homo sapiens (human)
DOID:2598	laryngeal benign neoplasm Aliases: laryngeal tumor larynx neoplasm neoplasm of larynx	ACACA ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2E1 DCN GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTGS2 SHMT1 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN	10327 125 126 128 131 1462 1543 1545 1571 1634 1636 217 23583 23659 2597 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5743 6470 6515 6783 847 8473 8821 929 960	Homo sapiens (human)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4gat1	108902	Mus musculus (house mouse)
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	362567 688673 84430	Rattus norvegicus (Norway rat)
DOID:854	collagen disease Aliases: collagen disorder	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:12400	kleptomania Aliases: Pathological stealing	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0050571	congenital disorder of glycosylation type II	Edem3 Galnt2	108148 66967	Mus musculus (house mouse)
DOID:2355	anemia Aliases: anaemia	G6pd2 G6pdx Hk1 Tnf	14380 14381 15275 21926	Mus musculus (house mouse)
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Naga	17939	Mus musculus (house mouse)
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:0060250	idiopathic scoliosis	AACS ABO ACE ACHE ACSM1 ACSM3 ALG14 B4GALNT3 CACNA2D1 CDH13 CERS6 CHODL CHST9 CNTFR CYB5R3 DGKB ENPP3 GALNT11 GALNT16 GBE1 GFRA1 HSD17B12 IPMK ITPK1 KLRD1 LARGE1 LIPC ME3 MSMO1 OPCML PLCH1 SLC39A8 SMUG1 ST6GALNAC3 ST8SIA5 TMTC4	1012 10873 116285 1271 140578 1607 1636 1727 199857 23007 23583 253430 253782 256435 2632 2674 28 283358 29906 3705 3824 3990 43 4978 51144 5169 57452 6296 6307 63917 64116 65985 781 83539 84899 9215	Homo sapiens (human)
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	CG31115 Mtap	318597 36955	Drosophila melanogaster (fruit fly)
DOID:0110457	dilated cardiomyopathy 1Y Aliases: CMD1Y	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	ABO ACE ACHE ALOX5 CALR COLEC11 CYP2B6 CYP51A1 FCN2 FDPS G6PD GCK GLUL LGALS3 LGALS9 MASP2 MBL2 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PRG2 PTGS2 RPIA SDC4 SIRT2 SMPD1 SOAT1 STS TPI1	10747 142 1555 1595 1636 2220 2224 22933 22934 23236 240 2539 2645 2752 28 3958 3965 412 4153 43 4860 4907 5290 5291 5293 5294 5332 5553 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	ACE AGK AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 55750 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:9470	bacterial meningitis	Chi3l1 Parp1	25591 89824	Rattus norvegicus (Norway rat)
DOID:0110388	retinitis pigmentosa 10 Aliases: RP10	PGK1	5230	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	315807	Rattus norvegicus (Norway rat)
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	Akt1 Comt Cs Gsk3b	170587 24185 24267 84027	Rattus norvegicus (Norway rat)

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