Periventricular nodular heterotopia

Disease Term Disease ID Gene Symbol Classification References Source
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
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT
MONDO:0010233
FLNA Causal
17172441 19289478 21169733 26471271 9883725
ClinVar GWAS catalog
PERIVENTRICULAR NODULAR HETEROTOPIA
C186872098892MESH:D054091MONDO:0020341
ATP2B1 Causal — Disgenet
BRCA1 Causal — Disgenet
FLNA Causal
11914408 9883725 16684786 16825286 17172441 18427995 19917821 20301392 22076441 23032111 24089482 29449050
CTD ClinGen Disgenet Orphanet
MAP1B Causal
29738522 30150678 31317654 33772511 37460233
ClinGen Disgenet Orphanet
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 — HPO
PERIVENTRICULAR NODULAR HETEROTOPIA 6
615544C3809872MONDO:0014240
ERMARD Causal — ClinVar Disgenet GenCC HPO
PERIVENTRICULAR NODULAR HETEROTOPIA 7
617201C4310669MONDO:0014966
NEDD4L Causal
27694961 28515470 30393983 32117442 34087865
ClinGen ClinVar Disgenet HPO
PERIVENTRICULAR NODULAR HETEROTOPIA 8
618185C4748602MONDO:0032588
ARF1 Causal
28868155 33057194 34353862
ClinVar Disgenet GWAS catalog HPO
PERIVENTRICULAR NODULAR HETEROTOPIA 9
618918C5394503MONDO:0030061
MAP1B Causal
29738522 30150678 31317654 8577753
CTD ClinVar Disgenet HPO