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Page 4 of 31 Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03

CYP19A1 Cytochrome P450 15q21.2 SSD TM - Aromatase deficiency [99]
Family 19 Subfamily A - Aromatase excess
Member 1 syndrome
DCDC2 Doublecortin Domain 6p22.3 SSD, DL CG - Sclerosing cholangitis, [149-151,154]
Containing 2 neonatal
- Nephronophthisis 19
- Deafness, autosomal
recessive 66
DGK1 Diacylglycerol Kinase 17q22 DL CG - Nephrotic syndrome, [154]
Epsilon type 7
- Susceptibility to
hemolytic uremic
syndrome, atypical
DRD2 Dopamine Receptor 11q23.2 SSD CG [162]
D2
DYM Dymeclin 18q21.1 DL TM - Dyggve-Melchior- [154]
Clausen disease
- Smith-McCort
dysplasia
DYX1C1 Dynein Axonemal 15q21.3 DL, SSD TM - Ciliary dyskinesia, [144-146]
Assembly Factor 4 primary, 25
DYX2 DL, TM [191]
ASD
DYX3 Dyslexia Susceptibility 2p16-p15 DL TM [139]
3
DYX5 Dyslexia Susceptibility 3p12-q13 DL, SSD WGS [98,140]
5
DYX6 Dyslexia Susceptibility 18p11.2 DL GWA [141]
6
DYX8 Dyslexia Susceptibility 1p36-p34 DL, SSD TM Replicated [142]
8
DYX9 Dyslexia Susceptibility Xq27.3 DL GWA [143]
9
ELKS ELK1, ETS Transcription 12p13.33 CAS CG [91]
Factor
ELP4 Elongator 11p13 SSD CG - Aniridia 2 [100]
Acetyltransferase
Complex Subunit 4
EN2 Engrailed 2 7q36.3 ASD TM [187]
FLCN Folliculin 7p11.2 CAS GWAS Additive - Birt-Hogg-Dube [88]
effects syndrome
- Colorectal cancer,
somatic
- Pneumothorax, primary
spontaneous
- Renal carcinoma,
chromophobe, somatic
FOXP1 Forkhead Box P1 3p13 CAS, DT, TM [81,86,87,179]
DLD, ASD CS
FOXP2 Forkhead Box P2 7q31.1 CAS, SSD GWASGWLA First gene [75,81,82-85,106,155,
TM identified, 172,181,203]
replicated in
several SLD
Not associated
with ASD and
ST
GCFC2 Transcription factor 9 2p12 ASD CG [191]
GLI3 GLI Family Zinc Finger 7p14.1 AP GWAS - Greig [109]
3 cephalopolysyndactyly
syndrome
- Pallister-Hall
syndrome
- Polydactyly, postaxial,
types A1 and B
- Polydactyly, preaxial,
type IV
- Hypothalamic
hamartomas, somatic
GLP2R Glucagon Like Peptide 17p13.1 CAS, ASD WES Additive [88]
2 Receptor effects