GlyCosmos Portal

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

Displaying entries **5001 - 5025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	ACAN CHST3 GLB1	176 2720 9469	Homo sapiens (human)	DisGeNET
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	ACAT1	38	Homo sapiens (human)	DisGeNET
DOID:7566	eccrine porocarcinoma Aliases: Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)	DisGeNET
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)	DisGeNET
DOID:9537	Lassa fever	DAG1 SLC17A5	1605 26503	Homo sapiens (human)	DisGeNET
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	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)	DisGeNET
DOID:12155	lymphocytic choriomeningitis Aliases: LCM Lymphocytic choriomeningitis virus encephalomyelitis Lymphocytic meningitis Lymphocytic meningoencephalitis	CD44 CHAT CLEC12A DAG1 SELL	1103 160364 1605 6402 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:672	spleen cancer Aliases: Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:3948	adrenocortical carcinoma Aliases: Adrenal cortical carcinoma carcinoma of the Adrenal cortex	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10440	mycotic corneal ulcer	CD209 CLEC4E CLEC7A ICAM1	26253 30835 3383 64581	Homo sapiens (human)	DisGeNET
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	ALDH1A3 GLB1 GPC5 LCT MRC1 MUTYH PLA2G2A PTGS2	220 2262 2720 3938 4360 4595 5320 5743	Homo sapiens (human)	DisGeNET
DOID:0090057	X-linked dystonia-parkinsonism	ALDH5A1 PGK1	5230 7915	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	DCN ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1 TP53	1634 23583 3383 5290 5291 5293 5294 5335 5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6AP1 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E PLCD3 SLC26A2	1109 113026 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS FOLR2 GAA GBE1 GGT1 GPX1 HMGCL HSD17B6 OGG1 PDHA1 SDHA SDHB SDHC SLC39A8 SOAT1 SORD TYMP	1376 1431 1890 217 2350 253782 2548 2632 2678 2876 31 3155 353 410 4968 51 5160 55750 6389 6390 6391 64116 6646 6652 79947 8630	Homo sapiens (human)	DisGeNET DisGeNET
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GPX1 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 2876 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PARP1 PKD1 PPT1 PPT2 PSAP SCP2	1203 142 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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