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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 **7801 - 7825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	KNSTRN OCA2 TGFB1	4948 7040 90417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070291	primary autosomal recessive microcephaly 4 Aliases: MCPH4	KNL1	57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080232	autosomal dominant intellectual developmental disorder 51 Aliases: autosomal dominant mental retardation 51	KMT5B	51111	Homo sapiens (human)	Alliance of Genome Resources
DOID:903	gastrointestinal lymphoma	KMT2D	8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080598	Kleefstra syndrome 2	KMT2C KMT2D	58508 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	KMT2B	9757	Homo sapiens (human)	Alliance of Genome Resources
DOID:4231	histiocytoma	KLRC4-KLRK1 KLRK1	100528032 22914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	KLK4	9622	Homo sapiens (human)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	KLK10 L1CAM	3897 5655	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110386	retinitis pigmentosa 42 Aliases: RP42	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080331	cold-induced sweating syndrome 3	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	KLC2	64837	Homo sapiens (human)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110590	autosomal dominant nonsyndromic deafness 69 Aliases: DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation Aliases: FPHH MUH melanosis universalis hereditaria	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:962	neurofibroma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:8440	ileus Aliases: Ileus of intestine	KIT MMP9 NOS3	3815 4318 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources

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