Col4a1-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Col4a1-Related Disorders

MalaCards integrated aliases for Col4a1-Related Disorders:

Name: Col4a1-Related Disorders ²⁵

Col4a1-Related Disorder ⁶

Characteristics:

GeneReviews:

²⁵

Penetrance Penetrance of col4a1-related disorders is probably close to 100%, with expression varying in age of onset and severity of the clinical symptoms, even in the same family; however, these data need verification in larger cohort studies...

Sources

Summaries for Col4a1-Related Disorders

MalaCards based summary : Col4a1-Related Disorders, also known as col4a1-related disorder, is related to angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps and familial porencephaly. Affiliated tissues include brain.

GeneReviews: NBK7046

Sources

Related Diseases for Col4a1-Related Disorders

Diseases related to Col4a1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	11.1
2	familial porencephaly	11.1
3	col4a1-related brain small-vessel disease	11.1
4	brain small vessel disease 1 with or without ocular anomalies	10.1

Sources

Symptoms & Phenotypes for Col4a1-Related Disorders

Sources

Drugs & Therapeutics for Col4a1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Col4a1-Related Disorders

Sources

Genetic Tests for Col4a1-Related Disorders

Sources

Anatomical Context for Col4a1-Related Disorders

MalaCards organs/tissues related to Col4a1-Related Disorders:

⁴²

Brain

Sources

Publications for Col4a1-Related Disorders

Articles related to Col4a1-Related Disorders:

#	Title	Authors	Year
1	A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. ( 28017902 )	Abe Y...Ihara K	2017

Sources

Genes for Col4a1-Related Disorders

Sources

Variations for Col4a1-Related Disorders

ClinVar genetic disease variations for Col4a1-Related Disorders:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	COL4A1	NM_001845.4(COL4A1): c.922G> A (p.Gly308Arg)	single nucleotide variant	Uncertain significance	rs370677625	GRCh38	Chromosome 13, 110205388: 110205388
2	COL4A1	NM_001845.4(COL4A1): c.922G> A (p.Gly308Arg)	single nucleotide variant	Uncertain significance	rs370677625	GRCh37	Chromosome 13, 110857735: 110857735

Sources

Expression for Col4a1-Related Disorders

Search GEO for disease gene expression data for Col4a1-Related Disorders.

Sources

Pathways for Col4a1-Related Disorders

Sources

GO Terms for Col4a1-Related Disorders

Sources

Sources for Col4a1-Related Disorders

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

MCID: CL4001 MIFTS: 5	Col4a1-Related Disorders
Variations Tissues Related diseases Publications Expand all tables