Disease Term Disease ID Gene Symbol References
Long narrow head C0221358 JAG1
AKT1
ALPL
ARSB
ATP6V1B2
ATRX
BLM
BRCA1
BRAF
BRCA2
CHRNG
CNTN1
NKX2-5
DLX3
DYNC1H1
ERCC4
ERF
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FBN1
FBN2
FKTN
FGFR2
MTOR
GATA4
GATA6
GDF1
GJA5
H3-3A
HNRNPK
HSD17B4
IDS
IDUA
INPPL1
IPW
LETM1
KMT2A
TRIM37
MVK
MYH3
NDN
NOTCH2
NOTCH3
NPR2
ORC4
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PI4KA
PLOD1
PRPS1
PTEN
PEX19
PEX2
PEX5
RAD51
RAD51C
RAF1
RPL10
RPS6KA3
RYR1
SKI
SLC3A1
SLC6A9
SNRPN
TBX1
TFAP2A 25590586
TWIST1
UBA1
VDR
NSD2
NELFA
XRCC2
MKRN3
ZNF142
SMC1A
OFD1
PEX3
CNTNAP1 27668699
CDK13 28807008
PEX11B
HERC2
SNAP29
PEX16
PREPL
CEP57
TMEM94
CUL7 30980518
FIG4
MKRN3-AS1
APC2
CITED2
MAD2L2
KDM5B
MAN1B1
TAB2
SLC35D1
EXOC6B
SATB2
OBSL1 30980518
ZFPM2
NPAP1
IFT81
SETD2
UBE2T
IFT52
TMEM216
KCNK9
MAGEL2
DYM
FANCL
RFWD3
FANCI
CHD7
PEX26
VAC14
IFT122
ERMARD
KMT2E
WDR35
FANCM
WDR19
ALX4
NSD1
PALB2
ASXL3
ITCH
CCDC8
BRIP1
SLX4
SHANK3
KLC4 30980518
IFT43
C12orf57
RAB39B
DIS3L2
NKX2-6
HGSNAT
GATA5
PWAR1
EBF3
FAM177A1
SNORD115-1
PWRN1
SNORD116-1
RNU4ATAC