HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
0.100 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0030232
Disease: Pallor
Pallor
0.100 Biomarker phenotype HPO
CUI: C0031046
Disease: Pericarditis
Pericarditis
0.100 Biomarker disease HPO
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
0.100 Biomarker phenotype HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.100 Biomarker group HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.100 Biomarker phenotype HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
0.100 Biomarker phenotype HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
0.100 Biomarker disease HPO
CUI: C0239676
Disease: High forehead
High forehead
0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
0.100 Biomarker disease HPO