GlyCosmos Portal

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

Displaying entries **12176 - 12200** of **15957** in total

« First

‹ Prev

…

484

485

486

487

488

489

490

491

492

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080493	ovarian dysgenesis 1	FSHR	2492	Homo sapiens (human)	Alliance of Genome Resources
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	EPB41 SLC4A1	2035 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110106	atrial heart septal defect 1 Aliases: ASD1 atrial septal defect 1	CCN1 NTF3	3491 4908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	GBA2	57704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2	128674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110877	holoprosencephaly 11 Aliases: HPE11	CDON	50937	Homo sapiens (human)	Alliance of Genome Resources
DOID:5117	dermoid cyst of ovary Aliases: Dermoid cyst Ovarian Dermoid Cyst	FOXO3	2309	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	ABCC8 ADIPOQ ADM AGT AGTR1 CCL2 GCK GFPT1 GLUD1 HP IL6 INS IREB2 KCNJ11 LEP LEPR LIPC LTA NPY5R PFKFB1 PRKCQ PTEN PTPN1 PTPRF RBP4 RPS6KB1 SCD	133 183 185 2645 2673 2746 3240 3569 3630 3658 3767 3952 3953 3990 4049 4889 5207 5588 5728 5770 5792 5950 6198 6319 6347 6833 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ATRX DAXX PCSK1	1616 5122 546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111643	autosomal recessive nonsyndromic deafness 115 Aliases: DFNB115 autosomal recessive deafness 115	SPNS2	124976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080016	spina bifida	APEX1 GLI1 GLI2 MTHFD1 MTR PTCH1 RNF2 SUZ12	23512 2735 2736 328 4522 4548 5727 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111407	Fraser syndrome 2 Aliases: FRASRS2	FREM2	341640	Homo sapiens (human)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	ADIPOQ AGER AGT APOA4 APOB CCL2 CD40LG CFH DBI ENPP1 FGB FTO GHRL GIPR GPX1 GPX3 GYS1 HP HSPA1A LIPG MPO PLAUR PPARG PPARGC1A PTGS2 TLR9 UBR1	10891 1622 177 183 197131 2244 2696 2876 2878 2997 3075 3240 3303 337 338 4353 5167 51738 5329 54106 5468 5743 6347 79068 9370 9388 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	APOB CYP1A1 PPARD	1543 338 5467	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Aliases: IBMPFD3 MSP3 multisystem proteinopathy 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	CTSA	5476	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050949	autosomal recessive hypophosphatemic rickets	DMP1	1758	Homo sapiens (human)	Alliance of Genome Resources
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	AMBRA1 COQ2 FAS IGF2 KLK6 SLC1A1 SLC6A6 SNCA	27235 3481 355 55626 5653 6505 6533 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060796	hypomyelinating leukodystrophy 12 Aliases: HLD12	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:1407	anterior uveitis	C2 C3 CCL2 CCR1 CCR5 CD59 CFB CFH HLA-B IL1RN NOS2 TLR2 TLR4 TNF	1230 1234 3075 3106 3557 4843 629 6347 7097 7099 7124 717 718 966	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements