Disease Term Disease ID Gene Symbol References
Malabsorption Syndrome C0024523 AGA
AK2
APC
FAS
ATP7A
B2M
BMPR1A
BTK
C4A
CAV1
CD79A
CD79B
CFTR
CCR1
CCR6
CCN2
CTNNB1
CYBA
CYBB
CYP27A1
CD55
DKC1
DMP1
DNMT3B
TYMP
ELN
ERCC2
F5
FLNA
CBLIF
GLA
MSH6
GTF2I
HBB
HELLS
HLA-B
HLA-DRB1
HPGD
IGHM
IGLL1
IL10
IL12A
IRF5
JAK2
KRAS
LIG4
LIMK1
EPCAM
MEFV
CIITA
MLH1
MPI
MSH2
COX1
COX2
COX3
ND1
ND4
ND5
ND6
MTTP
TRNE
TRNF
TRNH
TRNK
TRNL1
TRNQ
TRNS1
TRNS2
TRNW
MYD88
NCF2
NCF4
OCRL
PARN
PCSK1
ENPP1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
ABCB4
PIK3CA
PIK3R1
PMS1
PMS2
POLG
PEX19
PEX2
PEX5
RFC2
RFX5
RFXAP
RMRP
RPS20
SAA1
SI
SLC2A2
SLC5A1
SLCO2A1
AKR1D1
SRP54
STAT4
STX1A
TCF3
TERC
TERT
TGFB1
TGFBR2
TLR4
KDM6A
CLIP2
WFS1
XRCC4
KMT2D
KLRC4
PEX3
RFXANK
PEX11B
BAZ1B
RECQL4
PEX16
ADAMTS3
GTF2IRD1
LPIN2
ZBTB24
HYOU1
SRCAP
SPINK5
CLCA4
FAN1
PMPCA
VPS13A
TINF2
TBL2
MLH3
BLNK
SH3KBP1
NEUROG3
FOXP3
SBDS
DCTN4
RTEL1
ERAP1
NSUN2
WRAP53
SLC29A3
NOP10
SLC39A4
NHP2
PEX26
LRRC8A
TRMT5
SEMA4A
CYBC1
EFL1
FAT4
USB1
CTC1
HSD3B7
CDCA7
SLC46A1 17446347, 17129779
DNAJC21
CCBE1
IL23R
ARX
UBR1
RFX6
UBAC2
SLC6A19
CISD2
NCF1
IL12A-AS1