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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 **13301 - 13325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080404	orofacial cleft 11 Aliases: nonsyndromic cleft lip with or without cleft palate 11	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	BMP4 MYC NPY5R PRL PTGS2	4609 4889 5617 5743 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	BMP4 MMP9 TIMP1	4318 652 7076	Homo sapiens (human)	Alliance of Genome Resources
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	BMP4 MMP3	4314 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:18	urinary system disease Aliases: Non-neoplastic urinary tract disease urinary tract disease	BMP4 LZTS2	652 84445	Homo sapiens (human)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	BMP4 IL4R PTGS2 SLC7A5 TNF	3566 5743 652 7124 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	BMP4 HSPA1B LIFR NRIP1	3304 3977 652 8204	Homo sapiens (human)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	BMP4 GATA4 SOS1 TBX2	2626 652 6654 6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	BMP4 FOXC1	2296 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	BMP4 EIF4EBP1 FLNA MMP9 RHEB TSC1 TSC2	1978 2316 4318 6009 652 7248 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	BMP4 CTNNB1 GNAS SPARC SPP1	1499 2778 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	BMP4 CTNNB1 ERBB2 GPX1 SPARC SPP1	1499 2064 2876 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	BMP4 CDH1 FGFR1 GDF6 MTHFD1 NECTIN1 NOG POMT1 SDC2 SLC19A1	10585 2260 392255 4522 5818 6383 652 6573 9241 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	BMP4 CCL5 EGFR F11R IL13 IL5 PTGES TJP1 TNF	1956 3567 3596 50848 6352 652 7082 7124 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	BMP2 HFE	3077 650	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	BMP2 BMPR1B CDK7 GDF5	1022 650 658 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	BMP2 BMP4 EDA GREM2 LRP6 TSPEAR WNT10A WNT10B	1896 4040 54084 64388 650 652 7480 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080494	ovarian dysgenesis 2	BMP15	9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	BMP10 CFC1B DNAH5 DOCK1 FGF8 GATA4 HIRA INVS JAG1 MTHFD1 NRP1 NTF3 PHC1 POPDC1 PTPN11	11149 1767 1793 182 1911 2253 2626 27130 27302 4522 4908 5781 653275 7290 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	BMP1	649	Homo sapiens (human)	Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	BMP1 CCDC134 COL1A1 COL1A2 PHLDB1 SMAD4 SMPD3	1277 1278 23187 4089 55512 649 79879	Homo sapiens (human)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	BMI1 EZH2 SALL1 SUZ12 TEK VEGFA	2146 23512 6299 648 7010 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources

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