GlyCosmos Portal

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

Displaying entries **1026 - 1050** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080006	bone development disease	CSF1R FLNB LRP4 NPR2 TNFRSF11A	1436 2317 4038 4882 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080015	physical disorder Aliases: congenital disorder	BMP4	652	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:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	COL10A1	1300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	MMP13	4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	CTSK	1513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080041	hypochondroplasia	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	GRID2	2895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3	1280 1297 1298 1299 1301 1302	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:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080052	acromesomelic dysplasia, Grebe type Aliases: acromesomelic dysplasia-2A grebe chondrodysplasia	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	GNAS PTHLH	2778 5744	Homo sapiens (human)	Alliance of Genome Resources

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