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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7376 - 7400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4247	coronary restenosis	BCHE CDH13 CXCR3 ITGB2 LOX MBL2 MYC NPY5R SPP1 TNF TP53 UCP3	1012 2833 3689 4015 4153 4609 4889 590 6696 7124 7157 7352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	FGF8	2253	Homo sapiens (human)	Alliance of Genome Resources
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110609	primary ciliary dyskinesia 23 Aliases: CILD23 primary ciliary dyskinesia 23 with or without situs inversus	ODAD2	55130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070525	peeling skin syndrome 6 Aliases: PSS6	FLG2	388698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050083	Keshan disease	CYP1A1 CYP2C19 GPX1	1543 1557 2876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060000	infective endocarditis	TLR6	10333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABCB1 ABCC2 ABCG2 ABL1 ACE AGT AKT1 BCR CASP6 CD36 CD40 CDKN1B CRKL CYP1A1 CYP3A5 DNMT1 E2F1 EZH2 FAS FASLG FCGR2A FGFR3 GPX1 HES1 HLA-DQA1 HLA-DQB1 IL10 IL1RN MDM2 NCSTN PECAM1 SIPA1 SMAD4 STAT5A TERT TGFB1 USP15 VEGFA XRCC1	1027 1244 1399 1543 1577 1636 1786 183 1869 207 2146 2212 2261 23385 25 2876 3117 3119 3280 355 3557 356 3586 4089 4193 5175 5243 613 6494 6776 7015 7040 7422 7515 839 9429 948 958 9958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060772	multiple types of congenital heart defects 6 Aliases: DTGA3 dextro-looped transposition of the great arteries 3	GDF1	2657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060278	pontocerebellar hypoplasia type 9	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:2569	retinal drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050868	hepatocellular adenoma	A2M CYP2E1 HNF1A HP HPR KRAS PTPN11	1571 2 3240 3250 3845 5781 6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Aliases: PEOB5 autosomal recessive progressive external ophthalmoplegia 5	TOP3A	7156	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 ABCC3 CALB1 F7 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 2155 28234 3082 54658 6648 793 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:5138	leiomyomatosis	CD44 FH	2271 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	CCR1 CCR5 FLT1 IL18BP KDR MMP3 MMP9 TLR4 VEGFA	10068 1230 1234 2321 3791 4314 4318 7099 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111962	combined immunodeficiency	COPG1	22820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	SLC9A6	10479	Homo sapiens (human)	Alliance of Genome Resources
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources

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