Congenital hydrocephalus | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL HYDROCEPHALUS	C0020256	CCDC88C	Causal	—	Disgenet	Wnt signaling pathway
		PTCH1	Causal	—	Disgenet	cAMP signaling pathway Hedgehog signaling pathway Axon guidance +7 more
		SMARCC1	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		TRIM71	Causal	—	Disgenet	MicroRNAs in cancer Antigen processing: Ubiquitination & Proteasome degradation
		IPO11	Unknown	—	Disgenet	Nucleocytoplasmic transport
		MPDZ	Unknown	—	Disgenet	Tight junction
		RANBP17	Unknown	—	Disgenet	Nucleocytoplasmic transport
		SGCD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS	2182	L1CAM	Unknown	20301657	Orphanet	Axon guidance Cell adhesion molecules Basigin interactions +4 more
HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1	MONDO:0032862	TRIM71	Causal	19098426 29216221 29434669 29983323 31371437 33077954	ClinVar, GWAS catalog	MicroRNAs in cancer Antigen processing: Ubiquitination & Proteasome degradation
HYDROCEPHALUS, CONGENITAL, 1	236600 C3887608	CCDC88C	Unknown	—	Disgenet, HPO	Wnt signaling pathway
		DOCK6	Unknown	—	Disgenet	Factors involved in megakaryocyte development and platelet production
		FSD1L	Unknown	—	Disgenet	—
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES	C3554691 615219 OMIM:615219	ACADM	Unknown	—	Disgenet	Fatty acid degradation Valine, leucine and isoleucine degradation Metabolic pathways +7 more
		ANO6	Unknown	—	Disgenet	Efferocytosis Stimuli-sensing channels Neutrophil degranulation
		MPDZ	Unknown	—	CTD, Disgenet, HPO	Tight junction
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES	617967 C4747885 MONDO:0054794	WDR81	Causal	—	ClinVar, Disgenet, HPO	—
HYDROCEPHALUS, CONGENITAL, 4	618667 C5231454	TRIM71	Unknown	—	Disgenet, HPO	MicroRNAs in cancer Antigen processing: Ubiquitination & Proteasome degradation
HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO	MONDO:0859376	SMARCC1	Causal	29360170 29983323 33077954 37285932	ClinVar, Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
HYDROCEPHALUS, CONGENITAL, X-LINKED	307000	L1CAM	Unknown	—	HPO	Axon guidance Cell adhesion molecules Basigin interactions +4 more
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	MONDO:0009360	CCDC88C	Causal	23042809	ClinVar, GWAS catalog	Wnt signaling pathway
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2	MONDO:0014085	MPDZ	Causal	—	ClinVar, GenCC	Tight junction
HYDROCEPHALUS, X-LINKED	MESH:C536078	L1CAM	Unknown	7920659 7920660	CTD	Axon guidance Cell adhesion molecules Basigin interactions +4 more
HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION	C1844006	L1CAM	Causal	—	Disgenet	Axon guidance Cell adhesion molecules Basigin interactions +4 more