THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 Biomarker disease CTD_human
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 CausalMutation disease CLINVAR
CUI: C0009806
Disease: Constipation
Constipation
0.400 Biomarker phenotype HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
0.400 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia
0.110 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.100 Biomarker phenotype HPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
0.100 Biomarker disease HPO
CUI: C0013144
Disease: Drowsiness
Drowsiness
0.100 Biomarker phenotype HPO
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus
0.100 Biomarker phenotype HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia
0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.100 Biomarker phenotype HPO
CUI: C0043094
Disease: Weight Gain
Weight Gain
0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin
0.100 Biomarker phenotype HPO
CUI: C0231254
Disease: Increased body mass index
Increased body mass index
0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay
0.100 Biomarker phenotype HPO
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
0.100 Biomarker phenotype HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
0.100 Biomarker disease HPO
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.100 Biomarker disease HPO
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
0.100 Biomarker group HPO