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 **2826 - 2850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	AKR1C3 ALDOA ALOX15 CD109 CD44 CRLS1 HPGDS HSD17B7 NEU1 PCYT1B PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE SMUG1 SULF1 TEX101 VTCN1	135228 226 23213 23583 246 27306 2923 4758 51478 5290 5291 5293 5294 54675 5728 5743 6382 6401 79679 83639 8644 9468 960	Homo sapiens (human)
DOID:8282	adult epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:7095	childhood epithelioid sarcoma Aliases: pediatric epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:5518	penis squamous cell carcinoma Aliases: Epidermoid cell carcinoma of penis	CD109 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	135228 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:5535	gallbladder squamous cell carcinoma Aliases: Epidermoid gallbladder carcinoma	CD109	135228	Homo sapiens (human)
DOID:3315	lipoma Aliases: Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:10192	pleomorphic lipoma	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	ACE CD44 CHIA CPM PTEN PTGS2 SDC2 SELL SFTPD TM7SF2 TNF	1368 1636 27159 5728 5743 6383 6402 6441 7108 7124 960	Homo sapiens (human)
DOID:8233	inflammatory liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:5704	sclerosing liposarcoma	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:5690	well-differentiated liposarcoma Aliases: atypical lipomatous tumor	ALPP ATRNL1 CPM FASN GGT1 IDH1 IDH2 NANS TNKS	1368 2194 250 26033 2678 3417 3418 54187 8658	Homo sapiens (human)
DOID:0060046	aphasia	CPM L1CAM PRNP	1368 3897 5621	Homo sapiens (human)
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:9267	urea cycle disorder Aliases: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect	ACADL ACADM ACADVL ACAT1 AMT CAT CPT1A CPT2 CYP2C9 DLD GCK GCSH GLUL HADH HADHA HADHB HMGCL MMUT OGDH PC PCCA PCCB	1374 1376 1559 1738 2645 2653 275 2752 3030 3032 3033 3155 33 34 37 38 4594 4967 5091 5095 5096 847	Homo sapiens (human)
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	ALDH3A2 CPT1A CPT2 CYP7B1 DGAT1 DHCR24 FADS2 HADHA HADHB HSD17B4 LEP LIPC LPIN1 LPIN2 LPIN3 PPARA	1374 1376 1718 224 23175 3030 3032 3295 3952 3990 5465 64900 8694 9415 9420 9663	Homo sapiens (human)
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	ACADVL CPT1A CPT2 DHDDS EHHADH GBE1 HADH HADHA HADHB PTEN	1374 1376 1962 2632 3030 3032 3033 37 5728 79947	Homo sapiens (human)
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM ACADS ARSA CPT1A CPT2 SLC17A5	1374 1376 26503 34 35 410	Homo sapiens (human)
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	ACADM CPT1A CPT2 HSD17B4 PFKM PGAM2	1374 1376 3295 34 5213 5224	Homo sapiens (human)
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 CPT1A CYP27A1 CYP7A1 LEPR PCK1 SCD SPHK2 TNF	1374 1581 1593 31 3953 5105 55331 56848 6319 7124	Homo sapiens (human)
DOID:14219	renal tubular acidosis	ALDOB ATP6V0A2 CANX CPT1A CYP11B1 CYP11B2 CYP24A1 OCRL PC PFKM PFKP	1374 1584 1585 1591 229 23545 4952 5091 5213 5214 821	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)
DOID:0090031	D-bifunctional protein deficiency	ACADM CPT1A EHHADH HSD17B4 PFKM PGAM2	1374 1962 3295 34 5213 5224	Homo sapiens (human)
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	CPT1A NCAM1 PIK3CA SGPL1 SLC2A4 SMUG1	1374 23583 4684 5290 6517 8879	Homo sapiens (human)

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