Anemia

Disease Term Disease ID Gene Symbol Classification References Source
Anemia C0002871 ALAS2 Causal Pathogenic evidence from ClinVar - ClinVar
EPO Causal Pathogenic evidence from ClinVar 1516988, 1574960, 1893952, 1982298, 2186273, 2206997, 7529132, 7602351, 7631396, 7732690, 8202718, 8250662, 8260696, 8418619, 8504984, 9118049, 9616293, 9617462, 9743294, 10506726, 10713657, 11245434, 11273875, 11454181, 11569724, 11828949, 11981781, 12670280, 12713065, 12820454, 12897097, 12899718, 14568602, 14706663, 15160343, 15232364, 15660393, 16434484, 16511603, 16637862, 16707910, 16798232, 16949463, 16970215, 16970600, 17058596, 17168855, 17180133, 17288690, 17397412, 17409018, 17559739, 18265628, 18403296, 18611800, 18695134, 19015056, 19212639, 19787831, 20189893, 20303990, 21860424, 22174104, 23077460 ClinVar
GLRX5 Causal Pathogenic evidence from ClinVar - ClinVar
HBB Causal Pathogenic evidence from ClinVar - ClinVar
KLF1 Causal Pathogenic evidence from ClinVar - ClinVar
AASS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCB7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACAD8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Anemia, Macrocytic C0002886 ALAS2 Causal Pathogenic evidence from ClinVar - ClinVar
Microcytic hypochromic anemia (disorder) C0271901 ALAS2 Causal Pathogenic evidence from ClinVar - ClinVar
HBB Causal Pathogenic evidence from ClinVar - ClinVar
TMPRSS6 Causal Pathogenic evidence from ClinVar - ClinVar
ABCB7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Anemia, Hemolytic C0002878 ATP11C Causal Pathogenic evidence from ClinVar - ClinVar
EPO Causal Pathogenic evidence from ClinVar 10733367, 16629641, 20446436 ClinVar
G6PD Causal Pathogenic evidence from ClinVar 2502894, 3681550, 4794122, 8562390 ClinVar
HBB Causal Pathogenic evidence from ClinVar - ClinVar
HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED C4746970 ATP11C Causal Pathogenic evidence from ClinVar 26944472 ClinVar
Congenital dyserythropoietic anemia, type III C0271934 CDAN1 Causal Pathogenic evidence from ClinVar - ClinVar
CDIN1 Causal Pathogenic evidence from ClinVar - ClinVar
KLF1 Causal Pathogenic evidence from ClinVar - ClinVar
Anemia of inadequate production C0678199 CDIN1 Causal Pathogenic evidence from ClinVar - ClinVar
KLF1 Causal Pathogenic evidence from ClinVar - ClinVar
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib C3810185 CDIN1 Causal Pathogenic evidence from ClinVar 9220189, 23716552, 29885034, 31191338 ClinVar
Anemia, Diamond-Blackfan C1260899 EPO Causal Pathogenic evidence from ClinVar 28283061 ClinVar
Anemia, Hemolytic, Acquired C0002879 EPO Causal Pathogenic evidence from ClinVar 10733367, 16629641, 20446436 ClinVar
G6PD Causal Pathogenic evidence from ClinVar 2502894, 4794122, 8562390 ClinVar
Anemia, Microangiopathic C0002889 EPO Causal Pathogenic evidence from ClinVar 10733367, 16629641, 20446436 ClinVar
G6PD Causal Pathogenic evidence from ClinVar 2502894, 4794122, 8562390 ClinVar
DIAMOND-BLACKFAN ANEMIA-LIKE C4693556 EPO Causal Pathogenic evidence from ClinVar 28283061 ClinVar
Anemia, Hemolytic, Congenital C0002881 G6PD Causal Pathogenic evidence from ClinVar - ClinVar
Anemia, Hemolytic, Congenital Nonspherocytic C0002882 G6PD Causal Pathogenic evidence from ClinVar 4125296, 10666231 ClinVar
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY C2720289 G6PD Causal Pathogenic evidence from ClinVar 1303180, 1303182, 1536798, 1562739, 1611091, 1805484, 1889820, 1945893, 1978555, 1999409, 2263506, 2503817, 2572288, 2836867, 2849540, 2912069, 3338798, 3393536, 3446582, 5305539, 6714986, 7789945, 7806085, 7825590, 7858267, 7947239, 7947250, 7949118, 7959695, 8118045, 8193373, 8447319, 8490627, 8533762, 8537082, 8611726, 8733135, 8807321, 9452072, 9589612, 10221015, 10502785, 10643148, 11024211, 11243133, 11400791, 11499668, 11601226, 11793482, 12215013, 12367584, 12497642, 12524354, 14505231, 15315792, 15349799, 15502081, 16088936, 16119988, 16136268, 16143877, 16155737, 16329560, 16528451, 16607506, 16777444, 16927025, 17587269, 17726510, 17959407, 18046504, 18177777, 18270558, 18329300, 19589177, 19594365, 20007901, 20203002, 20602793, 20621077, 21302115, 21446359, 21677401, 21874587, 21989994, 22018328, 22165289, 22171972, 22237549, 22293322, 22906047, 22963789, 22963798, 23479361, 23926329, 23965028, 24460025, 24586352, 25141282, 25440321, 25541721, 25548459, 25775246, 26060661, 26226515, 26479991, 2682 ClinVar
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY C4225425 GLRX5 Causal Pathogenic evidence from ClinVar 17485548, 25342667, 27604308 ClinVar
SLC25A38 Causal Pathogenic evidence from ClinVar 19412178, 21393332, 25985931 ClinVar
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY C4225155 GLRX5 Causal Pathogenic evidence from ClinVar 17485548, 20364084, 25342667, 26100117 ClinVar
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive C2673914 GLRX5 Causal Pathogenic evidence from ClinVar 17485548 ClinVar
SLC25A38 Causal Pathogenic evidence from ClinVar - ClinVar
Anemia, Sickle Cell C0002895 HBB Causal Pathogenic evidence from ClinVar 81926, 1195378, 13464827, 16001361, 20067565, 24100324, 24361300, 25023084, 25023085, 26275168, 29255069 ClinVar
Heinz Body Anemias C0700299 HBB Causal Pathogenic evidence from ClinVar 20067565 ClinVar
Iron-Refractory Iron Deficiency Anemia C0085576 HBB Causal Pathogenic evidence from ClinVar - ClinVar
TMPRSS6 Causal Pathogenic evidence from ClinVar 18408718, 18603562, 19357398, 19592582, 19708871, 19747362, 20232450, 20704562, 21618415, 22581667, 25156943, 25252070, 25588876 ClinVar
Anemia, Megaloblastic C0002888 MMADHC Causal Pathogenic evidence from ClinVar - ClinVar
FANCONI ANEMIA, COMPLEMENTATION GROUP W C4521564 RFWD3 Causal Pathogenic evidence from ClinVar 28575657, 28691929 ClinVar
stomatocytic anemia C0272048 ABCB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -