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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 **2001 - 2025** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	FGF16	8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	STRA6	64220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111806	syndromic microphthalmia 5 Aliases: MCOPS5 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation	OTX2	5015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	SOX2	6657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111800	syndromic microphthalmia 12 Aliases: MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects	RARB	5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	GPR143	4935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111789	Frank-Ter Haar syndrome Aliases: Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay	SH3PXD2B	285590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111786	frontometaphyseal dysplasia 1 Aliases: FMD1	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111783	otopalatodigital syndrome type 1 Aliases: OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	RBM10	8241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources

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