Disease Term Disease ID Gene Symbol References
Speech Disorders C0037822 ABCB7
ACOX1
AGA
ARG1
STS
ASAH1
ALDH7A1
BBS1
BBS2
BBS4
CPT1A
CTNNB1
CYP27A1
DDOST
DDX3X
EYA1
FKTN
GPC4
FH
FOXI1
FLII
FMR1
MTOR
GATA2
GBA
GCDH
GPC3
GNAQ
GRID2
GRIN2A 23933820
HAL
HBA1
HBA2
HK1 28135719
HLA-B
IL12B
KCNJ10
MANBA
MAPT
MECP2
MITF 23167872, 22012259, 26650189, 25803691
KMT2A
MYH3
NEU1
NF2
NPHP1
OPHN1
PAX1
PDGFB
SLC26A4
PIK3R1
PTEN
NECTIN1
RAD21
RPS6KA3
SMARCB1
STIM1
TAT
TBX1
TBXAS1
MLX
TFAP2A
TGFB1
TTPA 10896705
TYROBP
VHL
CXCR4
MKKS
GDF5
SMC1A
NAA10
SMC3
LARGE1
WASHC5
MED12
DEAF1
POMT1
RAI1
SEPTIN9
SDCCAG8
SRCAP
PNPLA6
IFT27
PLPBP
TRIM32
IQSEC2
ADNP
NIPBL
PNKD
IFT172
BBS9
CCDC22
GMPPB
POMT2
SCAPER 30723319
WDPCP
ZDHHC9
SUFU
UPB1
TREM2
RNF216
LZTFL1
DYM
BCOR
MKS1
SETD5
BBS7
POMGNT1
HDAC8
ZC4H2
ARID1B
UPF3B
CCDC28B
FKRP
BBS10
CEP290
ARL6
ORAI1
MFSD2A 26005865
BBIP1
PRRT2
RAB39B
TTC8
BBS5
B3GALNT2
CFAP418
VPS13B
DNAAF4
BBS12
SAMD9L
NALCN
SLC13A5