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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 **7176 - 7200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	FGFR1 GNRHR NSMF	2260 26012 2798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081312	T-cell non-Hodgkin lymphoma	FGFR1 IER3 JAK3 KDM2B TMEM260 TP53	2260 3718 54916 7157 84678 8870	Homo sapiens (human)	Alliance of Genome Resources
DOID:403	mouth disease	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	Yap1	22601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	Yap1	22601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	Pgm1 Pgm5	226041 72157	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ALX4 BBS9 FGFR2 FGFR3 FLNA NELL1 NOG SKI TCF12 TWIST1	2261 2263 2316 27241 4745 60529 6497 6938 7291 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	FGFR3 KDM6A SF3B1	2261 23451 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	FGFR3 RICTOR	2261 253260	Homo sapiens (human)	Alliance of Genome Resources
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	APEX1 CD9 EFEMP2 ERAP1 FGFR3 MGMT PTGS1 PTK2 SPARC TK1	2261 30008 328 4255 51752 5742 5747 6678 7083 928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	FGFR3 HRAS NRAS PIK3CA	2261 3265 4893 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	FGFR3 HSPG2	2261 3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	FGFR3 SLC2A3 TBC1D4	2261 6515 9882	Homo sapiens (human)	Alliance of Genome Resources
DOID:3965	Merkel cell carcinoma Aliases: Trabecular adenocarcinoma trabecular carcinoma	CD68 FGFR3	2261 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050736	autosomal dominant disease	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060703	Muenke Syndrome Aliases: FGFR3-related craniosynostosis	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081371	lacrimoauriculodentodigital syndrome 2 Aliases: Lacrimo-auriculo-dento-digital syndrome 2	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080041	hypochondroplasia	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome Aliases: CATSHL syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources

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