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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 **8876 - 8900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1	2683	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070389	developmental and epileptic encephalopathy 103 Aliases: DEE103 early infantile epileptic encephalopathy 103	Kcnc2	268345	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	Ppia	268373	Mus musculus (house mouse)	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	268396	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111166	molybdenum cofactor deficiency type C Aliases: MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C	Gphn	268566	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	Pclo	26875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features melancholia	Pclo	26875	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	GH2 GHR GHRHR GHSR IGFALS TG	2689 2690 2692 2693 3483 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060872	isolated growth hormone deficiency type II Aliases: IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II	GH2	2689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Aliases: SSFSC	Scube3	268935	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5353	colonic disease Aliases: colon disorder	GHR	2690	Homo sapiens (human)	Alliance of Genome Resources
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	GHR	2690	Homo sapiens (human)	Alliance of Genome Resources
DOID:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	Ddx3y	26900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	Ddx3y	26900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111187	distal myopathy with anterior tibial onset Aliases: DMAT distal muscular dystrophy with anterior tibial onset	Dysf	26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B Aliases: LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3	Dysf	26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070199	Miyoshi muscular dystrophy 1 Aliases: MMD1 Miyoshi myopathy 1	Dysf	26903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	Eif2s3x	26905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060801	MEHMO syndrome Aliases: MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25	Eif2s3x	26905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060956	dystonia 37, early-onset with striatal lesions	Nup54	269113	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CLOCK GHRHR IGF1R INSR INSRR NF1 NPSR1 TFAP2B	2692 3480 3643 3645 387129 4763 7021 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	GHRHR	2692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111741	X-linked deafness 5 Aliases: AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy 1 with peripheral sensory neuropathy X-linked auditory neuropathy with peripheral sensory neuropathy type 1	Aifm1	26926	Mus musculus (house mouse)	Alliance of Genome Resources

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