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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 **2826 - 2850** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
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 DNM1 DNM2 KCNH5 KCNQ2 KCNQ3 KCNQ5 SLC32A1 STXBP1 STXBP2 SV2A	140679 1759 1785 27133 3785 3786 56479 6812 6813 9681 9900	Homo sapiens (human)	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
DOID:0112205	developmental and epileptic encephalopathy 69 Aliases: DEE69 early infantile epileptic encephalopathy 69	CACNA1E	777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	GLS	2744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	RNF13	11342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112210	developmental and epileptic encephalopathy 74 Aliases: DEE74 early infantile epileptic encephalopathy 74	GABRG2	2566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)	Alliance of Genome Resources

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