| Anemia |
C0002871 |
ABCA1
|
|
|
ABCB7
|
|
|
ACHE
|
31170385 |
|
ACTN4
|
|
|
ACVR1
|
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ACVRL1
|
|
|
ADA
|
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|
PARP1
|
20561897 |
|
AGT
|
3524928 |
|
AGXT
|
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AK2
|
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ALAS2
|
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ALPL
|
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ANK1
|
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AIRE
|
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BIRC3
|
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XIAP
|
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APOA1
|
|
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ATP7A
|
23776592 |
|
ATP7B
|
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ATRX
|
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CCND1
|
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BMPR1A
|
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BRCA1
|
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BTK
|
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|
CA2
|
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|
CAD
|
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|
CALR
|
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|
CASR
|
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SCARB2
|
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|
CDK6
|
28255017 |
|
LYST
|
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|
CLCN7
|
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COL7A1
|
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COL17A1
|
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COX6B1
|
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COX8A
|
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COX10
|
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|
COX15
|
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|
CP
|
|
|
CSF2
|
8297739, 11732872 |
|
CSF3
|
16076697, 17047649, 12085204 |
|
CTSK
|
|
|
DBH
|
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DKC1
|
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DNMT3B
|
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|
TYMP
|
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|
ECHS1
|
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|
ELANE
|
|
|
ENG
|
|
|
EPO
|
18265628, 20189893, 16798232, 1516988, 9616293, 11981781, 16434484, 1574960, 16637862, 11828949, 12820454, 2206997, 15232364, 19015056, 17409018, 14706663, 11245434, 18403296, 8504984, 16949463, 17559739, 16970600, 18695134, 20303990, 17058596, 16511603, 7631396, 7529132, 8250662, 12899718, 8260696, 1982298, 15160343, 17288690, 1893952, 8202718, 11569724, 11273875, 16707910, 12670280, 17180133, 19787831, 19212639, 9743294, 11454181, 18611800, 9617462, 16970215, 9118049, 21860424, 10506726, 23077460, 14568602, 15660393, 8418619, 17168855, 10713657, 12897097, 2186273, 12713065, 22174104, 7602351, 17397412, 7732690 |
|
ERBB3
|
|
|
ERCC2
|
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ERCC3
|
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MECOM
|
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EWSR1
|
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EXT2
|
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F2
|
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|
FANCA
|
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|
FANCC
|
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|
FANCD2
|
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FANCE
|
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|
FANCB
|
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|
FANCG
|
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|
FLI1
|
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|
FMO3
|
|
|
G6PC1
|
|
|
GATA1
|
11809723 |
|
GBA
|
|
|
GLA
|
|
|
GSR
|
5984971 |
|
GTF2E2
|
|
|
HBA1
|
|
|
HBA2
|
|
|
HBB
|
|
|
HBG1
|
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|
HBG2
|
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|
HELLS
|
|
|
HLA-B
|
|
|
HMGCL
|
|
|
HOXD13
|
27725143 |
|
HP
|
16637741 |
|
HPGD
|
|
|
HPRT1
|
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|
IDH1
|
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|
IDH2
|
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|
SP110
|
|
|
IFNA2
|
11981781, 1670585, 8886046, 12620292, 16557544 |
|
IFNG
|
|
|
IFNGR1
|
|
|
IGF2
|
12090760 |
|
IGH
|
|
|
IL2
|
7678812 |
|
IL2RG
|
|
|
IL3
|
12090760, 8202718 |
|
IL7R
|
|
|
IL12B
|
|
|
ITGA2B
|
|
|
ITGB3
|
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|
ITGB4
|
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ITK
|
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|
ITPA
|
20637204 |
|
JAK2
|
|
|
KIT
|
|
|
KRAS
|
27725143 |
|
KRT14
|
|
|
LAMA3
|
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|
LAMB3
|
|
|
LAMC2
|
|
|
LCAT
|
31164121 |
|
LIG4
|
|
|
LIPA
|
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|
SH2D1A
|
|
|
SMAD4
|
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|
MARS1
|
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|
MMP1
|
|
|
MPL
|
|
|
MTHFR
|
19391036, 25007187 |
|
MTRR
|
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|
TRNN
|
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|
TRNS1
|
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|
MUC1
|
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|
MMUT
|
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NDUFA2
|
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NDUFA4
|
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NDUFA9
|
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NDUFA10
|
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NDUFB8
|
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|
NDUFS1
|
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NDUFS2
|
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NDUFS3
|
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|
NDUFV1
|
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|
NDUFS4
|
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|
NDUFS8
|
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|
NDUFV2
|
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|
NPHP1
|
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|
NPM1
|
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|
NUMA1
|
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|
NUP98
|
27725143 |
|
OCRL
|
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PARN
|
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|
PCCA
|
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PCCB
|
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PCNT
|
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PDGFRA
|
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PDHA1
|
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PEPD
|
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PFKM
|
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PHKA2
|
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|
PHKG2
|
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|
PLEC
|
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|
PML
|
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|
POLG
|
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PRF1
|
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|
PRKACG
|
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|
PRKAR1A
|
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|
PRL
|
10340396 |
|
PSAP
|
|
|
PSMB4
|
|
|
PSMB8
|
|
|
PSMB9
|
|
|
PTH
|
15354979, 19578808 |
|
PTH1R
|
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|
ABCD4
|
|
|
RAG1
|
|
|
RAG2
|
|
|
RARA
|
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|
REN
|
3524928 |
|
RMRP
|
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|
RPL26
|
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|
RPL27
|
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|
RPS10
|
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|
RPS15A
|
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|
RPS26
|
|
|
RPS27
|
|
|
CLEC11A
|
19884328 |
|
SCO1
|
|
|
SDHA
|
|
|
SDHB
|
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|
SDHC
|
|
|
SLCO2A1
|
|
|
SOD2
|
20800516 |
|
SRP54
|
|
|
STAT3
|
|
|
STAT5B
|
|
|
STIM1
|
|
|
STK11
|
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|
SURF1
|
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|
TALDO1
|
|
|
TBCE
|
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|
TBXAS1
|
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|
MLX
|
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TERC
|
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|
TERT
|
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|
TF
|
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TFR2
|
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|
TFRC
|
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|
TGFB1
|
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|
THRA
|
|
|
TNF
|
16566752 |
|
TP53
|
|
|
TTR
|
|
|
TYMS
|
19648163 |
|
UMPS
|
|
|
WFS1
|
|
|
WT1
|
|
|
XRCC4
|
|
|
ZBTB16
|
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|
RNF113A
|
|
|
TNFSF11
|
|
|
STX11
|
|
|
TNFRSF11A
|
|
|
TNFRSF10A
|
19652058 |
|
BCL10
|
|
|
SLC7A7
|
|
|
COG1
|
|
|
RECQL4
|
|
|
CRIPT
|
|
|
ATG5
|
26568842 |
|
KIF23
|
|
|
GNA14
|
|
|
IFT140
|
|
|
ZBTB24
|
|
|
PLEKHM1
|
|
|
RBM8A
|
|
|
SCO2
|
|
|
FARSB
|
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|
AASS
|
|
|
SLC25A13
|
|
|
TCIRG1
|
|
|
IKZF1
|
|
|
MAD2L2
|
|
|
ATG7
|
26568842 |
|
KLF1
|
|
|
MALT1
|
|
|
VPS45
|
|
|
FASTKD2
|
|
|
KIF1B
|
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|
NDUFAF3
|
|
|
ZBTB20
|
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|
TINF2
|
|
|
ACAD8
|
|
|
FOXP1
|
|
|
COQ2
|
|
|
IGLV10-54
|
21483845 |
|
OSTM1
|
|
|
UBE2T
|
|
|
SNX10
|
|
|
SEC61A1
|
|
|
SLC40A1
|
16434484 |
|
RRM2B
|
|
|
SMARCAL1
|
|
|
FOXP3
|
|
|
YARS2
|
|
|
NDUFA13
|
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|
TRNT1
|
|
|
SBDS
|
|
|
TACO1
|
|
|
GLRX5
|
|
|
SLC25A37
|
22253756 |
|
PHF21A
|
|
|
LARS1
|
|
|
LIPT1
|
|
|
RTEL1
|
|
|
TET2
|
|
|
SAMD9
|
|
|
BCOR
|
|
|
NSUN2
|
|
|
SARS2
|
|
|
FANCL
|
|
|
WRAP53
|
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|
PNPO
|
|
|
STEAP3
|
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|
NOP10
|
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|
FOXRED1
|
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|
FERMT1
|
|
|
CHD7
|
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|
NHP2
|
|
|
NDUFA12
|
|
|
KIF15
|
|
|
COG6
|
|
|
HAMP
|
16627556, 24086573, 16434484 |
|
NLRC4
|
|
|
ALX4
|
|
|
FAM111A
|
|
|
NOD2
|
|
|
IFIH1
|
30965144 |
|
DCLRE1C
|
|
|
NABP1
|
|
|
ACD
|
|
|
VPS33A
|
|
|
ALG8
|
|
|
NDUFAF5
|
|
|
GNPTAB
|
|
|
EFL1
|
|
|
USB1
|
|
|
TBL1XR1
|
|
|
NHEJ1
|
|
|
CTC1
|
|
|
PUS1
|
|
|
SLC19A3
|
|
|
MPIG6B
|
|
|
FIP1L1
|
|
|
FERMT3
|
|
|
CDCA7
|
|
|
COA8
|
|
|
SLX4
|
|
|
COX4I2
|
|
|
ORAI1
|
|
|
COX14
|
|
|
LYRM7
|
|
|
TMEM67
|
|
|
NDUFAF2
|
|
|
G6PC3
|
|
|
SLC46A1
|
21346251, 17641272 |
|
NLRP3
|
|
|
MYSM1
|
|
|
COX20
|
|
|
MTFMT
|
|
|
DNAJC21
|
|
|
MPLKIP
|
|
|
NDUFAF6
|
|
|
MMAA
|
|
|
UBR1
|
|
|
UNC13D
|
|
|
SAMD9L
|
|
|
PTF1A
|
|
|
NPHP4
|
|
|
MMAB
|
|
|
STING1
|
|
|
IRF2BP2
|
|
|
NDUFS7
|
|
|
ASPG
|
2187653 |
|
ERCC6L2
|
|
|
GTF2H5
|
|
|
CISD2
|
|
|
PET100
|
|
| Microcytic hypochromic anemia (disorder) |
C0271901 |
ABCB7
|
|
|
ALAS2
|
|
|
ATRX
|
|
|
HBA1
|
|
|
HBA2
|
2050764 |
|
HBB
|
|
|
TF
|
11110675 |
|
LPIN2
|
|
|
IRX5
|
22581230 |
|
SHPK
|
|
|
TRNT1
|
|
|
DNAJC19
|
|
|
TMPRSS6
|
|
|
HBB-LCR
|
|
| Iron-Refractory Iron Deficiency Anemia |
C0085576 |
ACVR1
|
28476747 |
|
ACVRL1
|
|
|
ATRX
|
|
|
CP
|
|
|
ENG
|
|
|
FECH
|
|
|
GDF2
|
|
|
HBA1
|
|
|
HBA2
|
|
|
HBB
|
|
|
HBD
|
|
|
HBG1
|
|
|
IREB2
|
|
|
SMAD4
|
|
|
PSMB8
|
|
|
SMPD1
|
|
|
TEK
|
|
|
WAS
|
|
|
WIPF1
|
|
|
LPIN2
|
15994876, 23087183 |
|
IRX5
|
|
|
AGGF1
|
|
|
SLC29A3
|
|
|
SRD5A3
|
|
|
PUS1
|
|
|
TMPRSS6
|
22581667, 18408718, 21618415, 19592582, 19708871, 20232450, 25588876, 25156943, 19357398, 25252070, 20704562, 19747362, 18603562 |
| Anemia, Hemolytic |
C0002878 |
AK1
|
|
|
ALAD
|
|
|
ANK1
|
|
|
ATP7B
|
|
|
CD19
|
|
|
MS4A1
|
|
|
CD40LG
|
|
|
CD59
|
|
|
CD81
|
|
|
COL4A1
|
23225343 |
|
CR2
|
|
|
CTLA4
|
|
|
DNASE1
|
|
|
EPB41
|
|
|
EPB42
|
|
|
EPO
|
16629641, 10733367, 20446436 |
|
FCGR2A
|
|
|
FCGR2B
|
|
|
FECH
|
|
|
G6PD
|
3681550, 4794122, 8562390, 2502894 |
|
GALT
|
|
|
GATA1
|
|
|
GCLC
|
10515893 |
|
GP1BA
|
|
|
GPI
|
8822954 |
|
GSR
|
13931269 |
|
GSS
|
|
|
HBA1
|
|
|
HBA2
|
|
|
HBB
|
|
|
HLA-DRB1
|
|
|
HMOX1
|
9884342 |
|
IFNA2
|
16633111, 11010742, 15293138 |
|
ITPA
|
20547162 |
|
KCNN4
|
|
|
KRAS
|
|
|
LCAT
|
|
|
NFKB1
|
|
|
NFKB2
|
|
|
NRAS
|
|
|
PFKM
|
|
|
PGK1
|
|
|
PGM3
|
|
|
PIGA
|
|
|
PRKCD
|
|
|
RHAG
|
|
|
SLC2A1
|
|
|
SLC4A1
|
16227998 |
|
SPTA1
|
|
|
SPTB
|
9005995 |
|
TPI1
|
2876430 |
|
UROD
|
|
|
UROS
|
|
|
KDM6A
|
|
|
WAS
|
|
|
WIPF1
|
|
|
KMT2D
|
|
|
TNFSF12
|
|
|
ADAMTS13
|
|
|
TREX1
|
|
|
TNFRSF13B
|
|
|
PTPN22
|
|
|
LAT
|
|
|
EIF2AK1
|
25411909 |
|
ICOS
|
|
|
NT5C3A
|
|
|
PIGT
|
|
|
BTNL2
|
|
|
TNFRSF13C
|
|
|
ATP11C
|
|
| Anemia, Macrocytic |
C0002886 |
ALAS2
|
|
|
APC
|
27725143 |
|
GATA1
|
|
|
HLA-DQA1
|
|
|
HLA-DQB1
|
|
|
OPA1
|
|
|
RMRP
|
|
|
RPL5
|
|
|
RPL11
|
|
|
RPL15
|
|
|
RPL18
|
|
|
RPL26
|
|
|
RPL27
|
|
|
RPL35A
|
|
|
RPS7
|
|
|
RPS10
|
|
|
RPS14
|
|
|
RPS15A
|
|
|
RPS17
|
|
|
RPS19
|
|
|
RPS24
|
|
|
RPS26
|
|
|
RPS27
|
|
|
RPS28
|
|
|
RPS29
|
|
|
TCN2
|
|
|
THRA
|
27144938 |
|
DNM1L
|
|
|
RPL35
|
|
|
LARS1
|
|
|
ADA2
|
|
|
TET2
|
|
|
TSR2
|
|
|
TANGO2
|
|
| Normocytic anemia |
C0085577 |
ALDOA
|
|
|
BPGM
|
|
|
HK1
|
|
|
MYD88
|
|
|
RPS29
|
|
|
TPI1
|
|
|
SF3B1
|
|
|
TET2
|
|
|
EFL1
|
|
| Anemia, hereditary spherocytic hemolytic |
C0221409 |
ANK1
|
23664421 |
|
EPB42
|
1558976, 7772513, 23664421 |
|
SLC4A1
|
23664421 |
|
SPTA1
|
23664421 |
|
SPTB
|
23664421 |
| Anemia, Splenic |
C0002897 |
FAS
|
15877736 |
| Refractory anemias |
C0002893 |
BMPR1A
|
|
|
COL7A1
|
|
|
CP
|
|
|
MMP1
|
|
|
PTEN
|
|
|
TBXAS1
|
|
|
TNF
|
10870480 |
|
GREM1
|
|
|
DDX41
|
|
|
TET2
|
19483684, 19557078 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
C3469521 |
BRCA1
|
25472942 |
|
FANCA
|
10915769, 12697994, 10431244, 24584348, 12444097, 11091222, 8896564, 26740942, 10521298, 9399890, 17924555, 12955722, 9371798, 9929978, 10807541, 15516848, 26366677, 10090479, 23934222, 10210316, 16084127, 29098742, 25525159, 28717661, 20435624, 15523645, 25583207, 17726045, 15059067, 28864460, 16720839, 11739169, 19278965, 21273304, 15643609, 22778927, 19423727, 19367192, 15522956, 12913077, 11344308, 26799702, 23973728, 26136524, 29093742, 10094191, 16397136, 29376519, 29269525, 21659346, 27041517, 24037726, 23613520, 16493006, 11063725, 8896563, 11050007, 19686080, 24349332, 25953249 |
|
FANCC
|
|
|
FANCM
|
|
|
ZNF276
|
28717661, 15643609, 24037726, 29098742, 15059067, 9371798, 21273304, 23934222, 27041517, 12444097, 23973728, 15523645, 17924555, 24584348, 19367192, 26366677, 19278965, 23613520, 10521298 |
| Anemia, Sickle Cell |
C0002895 |
CACNA1C
|
29697308 |
|
CAD
|
38827 |
|
DHODH
|
38827 |
|
HBB
|
1195378, 29255069, 25023084, 16001361, 25023085, 20067565, 24100324, 81926, 26275168, 24361300, 13464827 |
|
HBE1
|
23406172 |
|
HBG2
|
23406172 |
|
HP
|
16597321 |
|
MCC
|
21326311 |
|
MUC4
|
28552477 |
|
NFE2L2
|
29255069 |
|
NPPB
|
20408845 |
|
TNF
|
14965870 |
|
UMPS
|
38827 |
|
VCAM1
|
16916123 |
|
NPRL3
|
23406172 |
|
RABEP1
|
28552477 |
|
BCL11A
|
21326311, 25372704, 25042611, 23406172 |
|
UGT1A10
|
22558097 |
|
UGT1A8
|
22558097 |
|
UGT1A7
|
22558097 |
|
UGT1A6
|
22558097 |
|
UGT1A5
|
22558097 |
|
UGT1A9
|
22558097 |
|
UGT1A4
|
22558097 |
|
UGT1A3
|
22558097 |
|
SORCS2
|
28552477 |
|
ARAP1
|
25670933 |
|
OR51B5
|
23406172 |
|
OR51I2
|
23406172 |
|
LINC01847
|
30578281 |
| Anemia, Hemolytic, Acquired |
C0002879 |
COL4A1
|
23225343 |
|
EPO
|
16629641, 20446436, 10733367 |
|
G6PD
|
2502894, 8562390, 4794122 |
|
GCLC
|
10515893 |
|
GPI
|
8822954 |
|
GSR
|
13931269 |
|
HMOX1
|
9884342 |
|
IFNA2
|
11010742, 16633111, 15293138 |
|
ITPA
|
20547162 |
|
SLC4A1
|
16227998 |
|
SPTB
|
9005995 |
|
TPI1
|
2876430 |
|
TRIM25
|
|
|
DGKE
|
|
|
EIF2AK1
|
25411909 |
| Anemia, Microangiopathic |
C0002889 |
COL4A1
|
23225343 |
|
EPO
|
16629641, 20446436, 10733367 |
|
G6PD
|
8562390, 2502894, 4794122 |
|
GCLC
|
10515893 |
|
GPI
|
8822954 |
|
GSR
|
13931269 |
|
HMOX1
|
9884342 |
|
IFNA2
|
15293138, 11010742, 16633111 |
|
ITPA
|
20547162 |
|
SLC4A1
|
16227998 |
|
SPTB
|
9005995 |
|
TPI1
|
2876430 |
|
EIF2AK1
|
25411909 |
| Anemia, Hemolytic, Congenital |
C0002881 |
CPOX
|
|
|
EPB41
|
|
|
G6PD
|
|
|
GYPC
|
|
|
PKLR
|
|
|
RHCE
|
9657769 |
|
RHD
|
9657769 |
|
SPTA1
|
|
|
SPTB
|
|
| Anemia, Megaloblastic |
C0002888 |
DHFR
|
21310276, 21310277 |
|
CBLIF
|
|
|
HPRT1
|
|
|
MAOB
|
7430361 |
|
MTHFD1
|
|
|
MTR
|
|
|
MTRR
|
|
|
PRDX1
|
|
|
TCN1
|
4627864 |
|
TCN2
|
4627864 |
|
WFS1
|
|
|
CUBN
|
22574174, 15024727 |
|
SLC19A2
|
|
|
FTCD
|
|
|
MMACHC
|
|
|
PHGDH
|
|
|
MMADHC
|
|
|
LMBRD1
|
|
|
AMN
|
|
|
SLC46A1
|
|
| stomatocytic anemia |
C0272048 |
EPB41
|
|
|
ERF
|
|
|
GP1BA
|
|
|
GYPC
|
|
|
RHAG
|
9716608, 18931342 |
|
SLC2A1
|
21791420, 22492876 |
|
SLC4A1
|
|
|
SPTA1
|
|
|
SPTB
|
|
|
PIEZO1
|
22529292, 23581886 |
|
ABCB6
|
|
|
ABCG5
|
|
|
ABCG8
|
|
| Anemia, Diamond-Blackfan |
C1260899 |
EPO
|
28283061 |
|
GATA1
|
24952648, 15920471, 8628290, 22706301, 28297620, 16783379, 24255919, 30228860, 24453067, 11809723, 16095949, 11566888, 23704091 |
|
RPL5
|
28297620, 19061985, 19191325, 23718193, 19773262 |
|
RPL9
|
20116044, 29114930 |
|
RPL11
|
23812780, 19191325, 19061985, 28297620, 19773262 |
|
RPL13
|
25424902 |
|
RPL15
|
28297620, 23812780 |
|
RPL18
|
28280134 |
|
RPL19
|
23718193 |
|
RPL26
|
22431104, 28297620 |
|
RPL27
|
25424902, 28297620 |
|
RPL31
|
28297620, 25042156 |
|
RPL35A
|
18535205, 28297620 |
|
RPS7
|
28297620, 27882484, 19061985 |
|
RPS10
|
22863883, 20116044, 23718193, 28297620 |
|
RPS15
|
28297620 |
|
RPS15A
|
27909223 |
|
RPS17
|
17647292, 28297620 |
|
RPS19
|
11112378, 28297620, 15384984, 15059149, 10590074, 9988267, 15075082, 25946618 |
|
RPS24
|
23812780, 22939629, 19689926, 19773262, 17186470, 28297620, 25946618, 18230666 |
|
RPS26
|
25946618, 23812780, 28297620, 20116044 |
|
RPS27
|
25424902, 28297620 |
|
RPS27A
|
26942564 |
|
RPS28
|
24942156, 28297620 |
|
RPS29
|
24829207, 28297620 |
|
TP53
|
|
|
RPL23
|
28297620 |
|
RPL35
|
28280134 |
|
RPL36
|
28297620 |
|
ADA2
|
24552284, 30503522 |
|
IQCG
|
|
|
TSR2
|
24942156, 28297620 |
|
DIPK1A
|
19061985, 23718193, 19773262 |
| DIAMOND-BLACKFAN ANEMIA-LIKE |
C4693556 |
EPO
|
28283061 |
| Estren-Dameshek Variant of Fanconi Anemia |
C1856796 |
FANCA
|
10915769, 10431244, 12913077, 11344308, 8896564, 29376519 |
| Anemia, Hemolytic, Congenital Nonspherocytic |
C0002882 |
G6PD
|
4125296, 10666231 |
|
TPI1
|
8503454 |
|
NT5C3A
|
16672222 |
| Anemia of inadequate production |
C0678199 |
GATA1
|
|
|
RPL26
|
|
|
SLC22A5
|
|
|
SEC23B
|
|
|
KLF1
|
|
|
TET2
|
|
|
CDIN1
|
|
|
COX4I2
|
|
| ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES |
C3550856 |
GATA1
|
30228860, 16783379, 11809723, 24453067, 10700180, 22706301 |
| Heinz Body Anemias |
C0700299 |
HBA1
|
2050764 |
|
HBA2
|
2050764 |
|
HBB
|
20067565 |
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY |
C3150343 |
HK1
|
7655856, 12393545, 28135719 |
| Aplastic anemia, idiopathic |
C0348890 |
IFNG
|
15327519 |
|
PRF1
|
17311987 |
|
TERC
|
12090986 |
|
TERT
|
16990594, 16627250 |
|
SBDS
|
17478638 |
| Anemia, Hypochromic Microcytic, With Iron Overload |
C2673913 |
SLC11A2
|
16160008, 16439678 |
|
STEAP3
|
|
| Anemia, Diamond-Blackfan, 3 |
C1857719 |
RPS24
|
23812780, 17186470, 19689926, 22939629, 19773262 |
| Anemia, Hemolytic, Idiopathic Acquired |
C0002883 |
SLC14A1
|
6427987 |
| Idiopathic Autoimmune Hemolytic Anemia |
C0543663 |
SLC14A1
|
6427987 |
| Anemia, Neonatal |
C0002891 |
SPTB
|
9005995 |
| Megaloblastic anemia due to inborn errors of metabolism |
C1306856 |
CUBN
|
10080186 |
|
AMN
|
21750092, 26040326 |
| Megaloblastic Anemia 1 |
C4551825 |
CUBN
|
15024727, 25349199, 22929189, 21208123, 10080186, 22574174, 10887099, 27604308 |
|
AMN
|
12590260, 22929189, 26040326, 29402915, 17285242, 30523278, 22631584, 15024727 |
| Congenital dyserythropoietic anemia, type III |
C0271934 |
KIF23
|
23570799, 7323912 |
|
SEC23B
|
19561605 |
|
KLF1
|
|
|
CDIN1
|
|
|
CDAN1
|
|
| Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive |
C2673914 |
GLRX5
|
17485548 |
|
SLC25A38
|
|
| ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY |
C4225155 |
GLRX5
|
17485548, 20364084, 26100117, 25342667 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP W |
C4521564 |
RFWD3
|
28691929, 28575657 |
| ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 |
C3808920 |
STEAP3
|
22031863 |
| ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib |
C3810185 |
CDIN1
|
9220189, 23716552, 31191338, 29885034 |
| Severe Aplastic Anemia |
C1883018 |
MASTL
|
22102272, 26136524 |
| HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED |
C4746970 |
ATP11C
|
26944472 |
| Refractory anemia |
98826 |
TET2
|
|
| ANEMIA, SIDEROBLASTIC, 4 |
C4225428 |
HSPA9
|
26491070 |
| ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY |
C4225425 |
GLRX5
|
17485548, 25342667, 27604308 |
|
SLC25A38
|
19412178, 21393332, 25985931 |
| ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
C2720289 |
G6PD
|
16927025, 1562739, 22293322, 12367584, 7959695, 6714986, 28195434, 3393536, 25775246, 25141282, 20621077, 1889820, 21302115, 11243133, 24460025, 8118045, 22165289, 2849540, 27053284, 19594365, 22237549, 8807321, 7947239, 17726510, 25440321, 8193373, 8447319, 20602793, 12215013, 18177777, 16329560, 20007901, 1303182, 26823837, 2836867, 18270558, 16607506, 20203002, 7825590, 14505231, 16528451, 10221015, 29339739, 25541721, 12524354, 16777444, 23926329, 22963798, 2263506, 1611091, 3338798, 16155737, 11793482, 1945893, 29072585, 16143877, 26479991, 1536798, 2503817, 30315739, 30988594, 8733135, 27213370, 3446582, 21677401, 11024211, 23479361, 7789945, 8533762, 7949118, 16136268, 26060661, 25548459, 26226515, 22963789, 8611726, 11400791, 8490627, 16119988, 17959407, 23965028, 11499668, 21446359, 10502785, 1999409, 9452072, 15502081, 7947250, 7806085, 17587269, 2572288, 9589612, 8537082, 12497642, 21989994, 22906047, 27880809, 1805484, 2912069, 15315792, 22171972, 24586352, 11601226, 22018328, 19589177, 1303180, 21874587, 7858267, 10643148, 15349799, 1978555, 18329300, 5305539, 16088936, 18046504 |
|
IKBKG
|
29339739, 30315739, 10502785, 16329560, 11601226 |
|
CASK
|
|
