Periventricular nodular heterotopia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5Q DELETION
C2752071
MAP1B Unknown — Disgenet
NEDD4L Unknown — Disgenet
HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE
C1842563MESH:C564292
ARFGEF2 Unknown — CTD, Disgenet
DCHS1 Unknown
24056717
CTD, Disgenet
FAT4 Unknown
24056717
CTD, Disgenet
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
C1845235MESH:C564492
FLNA Unknown
15668422
CTD, Disgenet
PERIVENTRICULAR NODULAR HETEROTOPIA
98892C1868720MONDO:0020341MESH:D054091
ARF1 Unknown
25305484 28868155 34353862 36345169 37118341 37185208 38014604
ClinGen, Disgenet, GWAS catalog, Orphanet
ARFGEF2 Unknown
14647276 25160555
Disgenet, Orphanet
BAG6 Unknown — Disgenet
ERMARD Unknown
24056535
CTD, ClinGen, Disgenet, GWAS catalog, Orphanet —
NEDD4L Unknown
27694961
CTD, Disgenet, Orphanet
TMTC3 Unknown
27773428 28973161
Disgenet, Orphanet —
PERIVENTRICULAR NODULAR HETEROTOPIA 1
300049
FLNA Unknown
11532987 11914408 14988809 15994863 16299064 18427995 19917821 20014127 20871226 20888935 21194575 22366253 23032111 23037936 23873601 25686753 26059841 26471271 27739212 28040145 28660794 28898549 29146485 29237676 29449050 30089473 33143682 33298907
HPO, ClinGen
All12 Causal7 Unknown10
Related Diseases Diseases that share the most curated genes with Periventricular nodular heterotopia.
5 View disease cluster →
Periventricular heterotopia, x-linked 6 shared genesARFGEF2, FLNA, MAP1B, NEDD4L, ARF1, ERMARD Related via 6 shared genes including ARFGEF2, FLNA, MAP1B. Cerebrofacioarticular syndrome 2 shared genesFAT4, DCHS1 Related via 2 shared genes including FAT4, DCHS1. Van maldergem syndrome 2 shared genesFAT4, DCHS1 Related via 2 shared genes including FAT4, DCHS1. Periventricular heterotopia with microcephaly, autosomal recessive 1 shared geneARFGEF2 Related via 1 shared gene including ARFGEF2. Periventricular laminar heterotopia 1 shared geneARFGEF2 Related via 1 shared gene including ARFGEF2.