Aplastic anemia

Disease Term Disease ID Gene Symbol Classification References Source
ANEMIA, APLASTIC
MESH:D000741
CSF2 Unknown
12221670 9885444
CTD
CSF3 Unknown
10544668 10629575 15863969 1642096 16553037 9777751
CTD
IFNG Unknown — CTD
NBN Unknown — CTD
PRF1 Unknown — CTD
SBDS Unknown — CTD
TERT Unknown
15814878
CTD
APLASTIC ANEMIA
609135C0002874HP:0001915MONDO:0015909
NBN Causal — ClinVar Disgenet HPO
PRF1 Causal — ClinVar Disgenet HPO
SBDS Causal — ClinVar Disgenet
TERT Causal — ClinVar Disgenet HPO
CSF2 Unknown — Disgenet
CSF3 Unknown — Disgenet
DDX41 Unknown — Disgenet
DIPK1A Unknown — Disgenet
DKC1 Unknown — Disgenet
EPHX1 Unknown — Disgenet
FANCM Unknown — Disgenet
GSTM1 Unknown — Disgenet
GSTT1 Unknown — Disgenet
HLA-DQA1 Unknown — Disgenet
HLA-DQB1 Unknown — Disgenet
IFNG Unknown — ClinVar Disgenet
RPL5 Unknown — Disgenet
TGFB1 Unknown — Disgenet
THPO Unknown — Disgenet
TNF Unknown — Disgenet
APLASTIC ANEMIA, IDIOPATHIC
C0348890
IFNG Unknown — Disgenet
NBN Unknown — Disgenet
PRF1 Unknown — Disgenet
SBDS Unknown — Disgenet
TERT Unknown — Disgenet
CONSTITUTIONAL APLASTIC ANEMIA
C0702159
CAD Unknown — Disgenet
UMPS Unknown — Disgenet
HEREDITARY ISOLATED APLASTIC ANEMIA
397692C5190891MONDO:0018340
ACD Unknown
25205116
Disgenet GWAS catalog Orphanet
MPL Unknown
22180433
Disgenet Orphanet
THPO Unknown
24085763
Disgenet GWAS catalog Orphanet
IDIOPATHIC APLASTIC ANEMIA
MONDO_001219788MONDO:0012197
ACKR1 Unknown
39024449
GWAS catalog
AFF2 Unknown
40465716
GWAS catalog
IDS Unknown
40465716
GWAS catalog
IFNG Unknown
15327519
Orphanet
JAK2 Unknown
39024449
GWAS catalog
NBN Unknown
119292 1351625 14973119 15185344 16770759 17957789 19452044 19908051 21514219 22006311 23149842 23765759 26315354 26402912 26720728 26786923 27433846 28376765 28418444 28649662 29368341 29522266 29988077 30128536 30287823 30730552
Orphanet
PNPLA3 Unknown
39024449
GWAS catalog
PRF1 Unknown
17311987
Orphanet
SBDS Unknown
17478638
Orphanet
TERT Unknown
16627250 16990594
Orphanet
RARE CONSTITUTIONAL APLASTIC ANEMIA
C5681331
POLA1 Unknown — Disgenet
POT1 Unknown — Disgenet
ZCCHC8 Unknown — Disgenet