HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3841459
Disease: Hb H disease
Hb H disease
disease Disease or Syndrome 10 2 0.400 strong 0.955 22 1979 2015
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
disease Disease or Syndrome 35 0.050 None 1.000 5 1980 1996
CUI: C0850672
Disease: hereditary anemia
hereditary anemia
disease Disease or Syndrome 4 0.020 None 1.000 2 2001 2004
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.020 None 1.000 2 1990 1992
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia
disease Disease or Syndrome 9 0.020 None 1.000 2 2001 2015
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2018 2018
CUI: C1260397
Disease: Alpha thalassemia minor
Alpha thalassemia minor
disease Disease or Syndrome 2 0.010 None < 0.001 1 1989 1989
CUI: C1281911
Disease: Hemoglobin A measurement
Hemoglobin A measurement
phenotype Laboratory Procedure 6 6 0.100 None 1.000 1 1 2019 2019
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome
disease Disease or Syndrome 52 0.010 None 1.000 1 2007 2007
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
disease Neoplastic Process 48 6 0.010 None 1.000 1 1999 1999
CUI: C2873754
Disease: Severe alpha thalassemia
Severe alpha thalassemia
disease Disease or Syndrome 3 0.010 None 1.000 1 1987 1987
HEMOGLOBIN H HYDROPS FETALIS SYNDROME
disease Disease or Syndrome 3 0.300 strong 1.000 1 2013 2013
CUI: C3841469
Disease: Hb E beta zero thalassemia
Hb E beta zero thalassemia
disease Disease or Syndrome 2 0.010 None 1.000 1 1991 1991
CUI: C3844575
Disease: Hb E beta-thalassemia
Hb E beta-thalassemia
disease Disease or Syndrome 3 0.010 None 1.000 1 1981 1981
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.010 None 1.000 1 2011 2011
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
phenotype Finding 9 1 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0553699
Disease: Heinz body observation
Heinz body observation
phenotype Laboratory or Test Result 6 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1260396
Disease: Alpha thalassemia intermedia
Alpha thalassemia intermedia
disease Disease or Syndrome 3 0.300 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0