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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 **6751 - 6775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060312	angular cheilitis Aliases: angular cheilosis angular stomatitis cheilosis commissural cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	Zw	32974	Drosophila melanogaster (fruit fly)
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	Atf4	79255	Rattus norvegicus (Norway rat)
DOID:780	placenta disease	ANXA5 HSD11B2 PRSS8	308 3291 5652	Homo sapiens (human)
DOID:11371	functional diarrhea Aliases: functional diarrhoea	AGA	175	Homo sapiens (human)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	777668	Danio rerio (zebrafish)
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	ACACA ACE ACO1 AKR1B1 AKR1D1 ALDH2 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CD14 CYP27B1 FADS2 FUT1 FUT2 G6PD GALNS GLUL GNPAT GPC1 GPC3 GPC5 GPX1 HJV HPGDS ICAM1 IL1R1 LGALS3 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 PRNP RGMA RGMB SELE SELL SLC17A5 SLC39A8 SMPD1 STS SULT1E1 TNF TUSC3 UGT1A1 VCAM1	148738 1594 1636 217 2262 231 250 2523 2524 2539 2588 26033 26503 2719 27306 2752 2817 285704 2876 308 31 3383 3554 3958 410 412 4706 48 5290 5291 5293 5294 54658 5621 56963 6401 6402 64116 6609 6718 6783 7124 7412 7991 80339 811 84317 8443 847 929 9415	Homo sapiens (human)
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	Akt1 Trp53	11651 22059	Mus musculus (house mouse)
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	Ostgamma	34137	Drosophila melanogaster (fruit fly)
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	PGAM2	5224	Homo sapiens (human)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:670	amphetamine abuse	Comt	24267	Rattus norvegicus (Norway rat)
DOID:9553	adrenal gland disease	SDHB	6390	Homo sapiens (human)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	CALR CD14 HSD17B6 PLAUR SELL STS	412 5329 6402 811 8630 929	Homo sapiens (human)
DOID:219	colon cancer	akt1.S hs3st2.L hs3st2.S	108701605 108703165 399170	Xenopus laevis (African clawed frog)
DOID:1731	histoplasmosis	ABO ATP6V1A CAT CD14 CD209 CEL CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1056 1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	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)
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	ACSM3 ADH5 AGPAT2 CD44 CD55 CYP17A1 CYP19A1 CYP3A4 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 INPPL1 L1CAM LPL MMUT NT5E PIK3CA PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 SRD5A3 STS TYMP XYLT1	10555 10908 128 148738 1576 1586 1588 1604 1890 2619 2710 2817 3293 3636 3897 4023 412 4594 4907 5290 5373 55512 6296 64131 6646 79644 8482 9394 960	Homo sapiens (human)
DOID:1324	lung cancer	Braf Comt Hs3st2 Idh2 Mbd4 Myc Pik3ca	109880 12846 17193 17869 18706 195646 269951	Mus musculus (house mouse)
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)

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