IRX5, iroquois homeobox 5, 10265

N. diseases: 63; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease CTD_human
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease GENOMICS_ENGLAND
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 Biomarker disease GENOMICS_ENGLAND
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
0.700 CausalMutation disease CLINVAR
Sensorineural Hearing Loss (disorder)
0.400 Biomarker disease HPO
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia
0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.100 Biomarker disease HPO
Iron-Refractory Iron Deficiency Anemia
0.100 Biomarker disease HPO
CUI: C0221217
Disease: Neck webbing
Neck webbing
0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
0.100 Biomarker disease HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease HPO
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
0.100 Biomarker phenotype HPO
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 Biomarker disease HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.100 Biomarker phenotype HPO
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
0.100 Biomarker phenotype HPO