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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 **501 - 525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0080506	Cornelia de Lange syndrome 2	SMC3	9126	Homo sapiens (human)	DisGeNET
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)	DisGeNET
DOID:2012	Nezelof syndrome Aliases: Nezelof's syndrome T-cell immunodeficiency with thymic aplasia TIDTA thymic aplasia thymic dysplasia with normal immunoglobulins	DGCR2 IL18R1 PNP	4860 8809 9993	Homo sapiens (human)	DisGeNET
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060758	immunodeficiency with hyper-IgM type 2 Aliases: AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2	UNG	7374	Homo sapiens (human)	DisGeNET
DOID:0050585	congenital generalized lipodystrophy	AGPAT2 AGPS PCYT1A PNPLA2	10555 5130 57104 8540	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)	DisGeNET
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	LPL	4023	Homo sapiens (human)	DisGeNET
DOID:0050990	episodic ataxia type 2	PRKCSH	5589	Homo sapiens (human)	DisGeNET
DOID:963	episodic ataxia Aliases: Isaacs syndrome	PDHA1 PIGP PIGQ	51227 5160 9091	Homo sapiens (human)	DisGeNET
DOID:2653	benign fibrous mesothelioma Aliases: fibrous mesothelioma, benign localized benign fibrous Mesothelioma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0080198	infantile histiocytoid cardiomyopathy	IL1RL1	9173	Homo sapiens (human)	DisGeNET
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0050830	peripheral artery disease	ABO ACE ACOD1 ACSS2 ADIPOQ ALDH7A1 ARSA CD14 CHI3L1 CNTN3 CS CYP1A2 CYP2B6 ENPP1 IL1RL1 LGALS3 LIPC LPL NPY1R PCYT1A PLA2G15 PLA2G7 PTGS1 PTGS2 SELP SFTPD SLC2A10 SRD5A1 SRD5A2 SULT1E1 UGDH UGT1A1 VCAM1	1116 1431 1544 1555 1636 23659 28 3958 3990 4023 410 4886 501 5067 5130 5167 54658 55902 5742 5743 6403 6441 6715 6716 6783 730249 7358 7412 7941 81031 9173 929 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	CD1D COLEC11 FCN2 MASP2 MBL2	10747 2220 4153 78989 912	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070212	hereditary lymphedema I Aliases: LMPH1 Milroy disease Nonne-Milroy lymphedema PCL congenital primary lymphedema hereditary lymphedema type I	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)	DisGeNET
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)	DisGeNET
DOID:0050580	hereditary lymphedema	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)	DisGeNET
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	SDC1	6382	Homo sapiens (human)	DisGeNET
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)	DisGeNET
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)	DisGeNET DisGeNET

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