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Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03 Page 5 of 31

GNPTAB N-Acetylglucosamine- 12q23.2 ST GWLA CG Replicated - Mucolipidosis II alpha/ [69]
1-Phosphate beta
Transferase Subunits - Mucolipidosis III
Alpha And Beta alpha/beta
GNPTG N-Acetylglucosamine- 16p13.3 ST CG Replicated - Mucolipidosis III [69]
1-Phosphate gamma
Transferase Subunit
Gamma
GRN Granulin Precursor 17q21.31 AP CG - Ceroid lipofuscinosis, [111]
neuronal
- Frontotemporal lobar
degeneration with
ubiquitin-positive
inclusions
HRAS HRas Proto-Oncogene, 11p15.5 ASD CG - Congenital myopathy [189]
GTPase with excess of muscle
spindles
- Costello syndrome
- Schimmelpenning-
Feuerstein-Mims
syndrome, somatic
mosaic
- Bladder cancer,
somatic
- Nevus sebaceous
or woolly hair nevus,
somatic
- Spitz nevus or nevus
spilus, somatic
- Thyroid carcinoma,
follicular, somatic
KAT6A Lysine 8p11.21 CAS WGS - Mental retardation, [89]
Acetyltransferase 6A autosomal dominant 32
KIAA0319 - 6p22.3 DL, SSD, WES, [90,153-155,191,208]
DLD, GWAS
CAS,
ASD
KIAA1267 KAT8 Regulatory NSL 17q21.13 DL CG - Koolen-De Vries [166]
complex, subunit 1 syndrome
LRRC37A Leucine rich repeat 17q21.31 DL CG [166]
containing protein 37A
MC5R Melanocortin 5 18p11.21 DL CG [154]
receptor
MED13L Mediator Complex 12q24.21 ASD CG - Transposition of the [177]
Subunit 13 Like great arteries, dextro-
looped 1
- Mental retardation and
distinctive facial features
with or without cardiac
defects
MET MET Proto-Oncogene, 7q31.2 ASD CG - Deafness, autosomal [184,185]
Receptor Tyrosine recessive 97
Kinase - Hepatocellular
carcinoma, childhood
type, somatic
- Renal cell carcinoma,
papillary, 1, familial and
somatic
- Osteofibrous dysplasia,
susceptibility to
MRPL19 Mitochondrial 2p12 DL GWLA Coregulator [158,191]
Ribosomal Protein L19 Replicated
MYO10 Myosin X 5p15.1 CAS WES Additive [88]
effects
NAGPA N-Acetylglucosamine- 16p13.3 ST CG Replicated [69]
1-Phosphodiester
Alpha-N-
Acetylglucosaminidase
NBEA Neurobeachin 13q13.3 ASD CG [188]
NCOR1 Nuclear Receptor 17p12-p11 CAS WES Additive [88]
Corepressor 1 effects
NDST4 N-Deacetylase And 4q26 DLD GWAS [128]
N-Sulfotransferase 4