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Page 6 of 31 Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03

NEDD4L Neural Precursor 18q21.31 DL CG - Periventricular nodular [154]
Cell Expressed, heterotopia 7
Developmentally
Down-Regulated
4-Like, E3 Ubiquitin
Protein Ligase
NEK8 NIMA Related Kinase 17q11.2 CAS WES Additive - Renal-hepatic- [88]
8 effects pancreatic dysplasia 2
- Nephronophthisis
NFXL1 Nuclear Transcription 4p12 DLD WES [130]
Factor, X-Box Binding
Like 1
NIPBL NIPBL, Cohesin 5q13.2 CAS WES Additive - Cornelia de Lange [88]
Loading Factor effects syndrome 1
NOP9 NOP9 Nucleolar 14q12 DLD GWAS [129]
Protein
NSF N-ethylmaleimide 17q21.31 DL CG [166]
sensitive factor
NSFP1 N-ethylmaleimide 17q21.31 DL CG Pseudo- gene [166]
sensitive factor
pseudogene 1
PAX6 Paired Box 6 11p13 SSD CG - Coloboma of optic [100]
nerve
- Coloboma, ocular
- Morning glory disc
anomaly
- Aniridia
- Anterior segment
dysgenesis 5, multiple
subtypes
- Cataract with late-
onset corneal dystrophy
- Foveal hypoplasia 1
- Keratitis
- Optic nerve hypoplasia
PCDH11X Protocadherin 11 Xq21.31 DL CG [165]
X-linked
PSEN1 Presenilin 1 14q24.2 AP CG - Acne inversa, familial, [109]
3
- Alzheimer disease,
type 3
- Alzheimer disease,
type 3, with spastic
paraparesis and apraxia
- Alzheimer disease,
type 3, with spastic
paraparesis and unusual
plaques
- Cardiomyopathy,
dilated, 1U
- Dementia,
frontotemporal
- Pick disease
PTEN Phosphatase And 10q23.31 ASD CG - Bannayan-Riley- [190]
Tensin Homolog Ruvalcaba syndrome
- Cowden syndrome 1
- Lhermitte-Duclos
syndrome
- Macrocephaly/autism
syndrome
- PTEN hamartoma
tumor syndrome
- VATER association
with macrocephaly and
ventriculomegaly
- Glioma susceptibility 2
- Meningioma
- Prostate cancer,
somatic
RBFOX2 Homolog of RNA- 22q12.3 GWAS [126]
binding protein FOX1,
C.elegans, 2