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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 **4351 - 4375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111841	Shukla-Vernon syndrome Aliases: SHUVER	BCORL1	63035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081395	Harel-Yoon syndrome Aliases: Ocular anomalies-axonal neuropathy-developmental delay syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	ACVR1B APOA1 APOC3 ATM ATRX CDKN1B CHRNA3 CHRNA5 CHRNA9 CHRNB4 CSF1R CYP24A1 DLL4 E2F1 EEF2 FAT1 FOXA1 GRP ITGB1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MTOR NOTCH1 PBRM1 PTK2 RARB RICTOR SKP2 XPO5	1027 1136 1138 1143 1436 1591 1869 1938 2195 2475 253260 2922 3169 335 345 3688 3909 3914 3918 472 4851 54567 546 55193 55584 5747 57510 5915 6502 7403 8085 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	ATXN1 ATXN1L ATXN2 ATXN2L ITPR1 ITPR2 ITPR3 NPTX1 SAMD9L	11273 219285 342371 3708 3709 3710 4884 6310 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:11077	brucellosis Aliases: Maltese fever undulant fever	CD163 IFNG	3458 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	DZIP1 FZD5 LAMB1 PTCH2 SALL2 TMEM67 YAP1	10413 22873 3912 6297 7855 8643 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	KRT5 POFUT1 POGLUT1	23509 3852 56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	SRD5A3	79644	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3 RGS3 SLC18A3	1131 5998 6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	CACNA1F GUCY2D NYX TRPM1	3000 4308 60506 778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060931	developmental dysplasia of the hip 1 Aliases: DDH1	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	COL11A1 EPHA10 GREB1L GRHL2 MAP1B PI4KB THOC1 TRRAP USP48	1301 284656 4131 5298 79977 80000 8295 84196 9984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:7575	pancreatic intraductal papillary-mucinous neoplasm	AKT1 TP53 VEGFD	207 2277 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT CCL2 CTLA4 ICAM1 IFNG IL10 IL1A IL1RN IL23R IL2 IL3 PPARG SERPINE1 TNF TSHR	149233 1493 3383 3458 3552 3557 3558 3562 3586 5054 5468 6347 7124 7253 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:3410	carotid artery thrombosis	F3 THBD	2152 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	APC AURKB BSG CD82 CDH13 ERAP1 FGF7 GRB2 GSK3B HDAC3 HRAS JUN MMP8 MMP9 NCOA1 NCOR2 NOS3 POLE PRKCA PTGS1 PTK2 RUNX3 SFN SMAD4 SPARC TFF1 TIMP1 TP53 WNT2 WNT4 WNT5A	1012 2252 2810 2885 2932 324 3265 3725 3732 4089 4317 4318 4846 51752 5426 54361 5578 5742 5747 6678 682 7031 7076 7157 7472 7474 864 8648 8841 9212 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources

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