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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 **2226 - 2250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060817	syndromic X-linked intellectual disability 34 Aliases: MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type	NONO	4841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	Cul4b	72584	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	CUL4B	8450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	GluRIA	38742	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	Gria3	29628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	glr-1 glr-2	175999 176204	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	GRIA3	2892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	Gria3	53623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	NHX1	852066	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	SLC9A6	10479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060825	Christianson syndrome Aliases: MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome	Slc9a6	236794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	MYO5A	4644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	Myo5a	25017	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	Myo5a	17918	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	Prss56	69453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	gdf6a gdf6b	30180 566470	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	Gdf6	242316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources

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