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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3551 - 3575** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112166	autosomal dominant nonsyndromic deafness 75 Aliases: DFNA75	TRRAP	8295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112167	autosomal dominant nonsyndromic deafness 76 Aliases: DFNA76	PLS1	5357	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	ABCC1	4363	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112170	Noonan syndrome 12 Aliases: NS12	RRAS2	22800	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1 Aliases: VKCFD1	GGCX	2677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112175	spermatogenic failure 47 Aliases: SPGF47	DZIP1	22873	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112180	urocanase deficiency Aliases: UROCD encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria	UROC1	131669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	MLH1 MSH2 MSH6 POLE RNASET2 SLC22A9 TGFBR2 TP53	114571 2956 4292 4436 5426 7048 7157 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112184	thyroid dyshormonogenesis 5 Aliases: TDH5 genetic defect in thyroid hormonogenesis 5	DUOXA2	405753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112185	thyroid dyshormonogenesis 1 Aliases: TDH1 genetic defect in thyroid hormonogenesis 1 iodide accumulation, transport, or trapping defect	SLC5A5	6528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112186	thyroid dyshormonogenesis 2A Aliases: TDH2A genetic defect in thyroid hormonogenesis 2A iodide peroxidase deficiency thyroid peroxidase deficiency	TPO	7173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112187	thyroid dyshormonogenesis 3 Aliases: TDH3 genetic defect in thyroid hormonogenesis 3	TG	7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112189	thyroid dyshormonogenesis 6 Aliases: TDH6 genetic defect in thyroid hormonogenesis 6	DUOX2	50506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112192	tetraamelia syndrome 1 Aliases: TETAMS1 tetra-amelia syndrome 1	WNT3	7473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	RSPO2	340419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	CKAP2L	150468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	KIF22	3835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	DEPDC5 KCNH5 SLC32A1 SV2A	140679 27133 9681 9900	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112204	developmental and epileptic encephalopathy 68 Aliases: DEE68 early infantile epileptic encephalopathy 68	TRAK1	22906	Homo sapiens (human)	Alliance of Genome Resources

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