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
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 GermlineCausalMutation disease ORPHANET Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 Biomarker disease CTD_human
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 CausalMutation disease CLINVAR
CUI: C1970027
Disease: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 		0.700 GeneticVariation disease UNIPROT Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0027092
Disease: Myopia
Myopia 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 Biomarker disease GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643 2017
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.300 Biomarker disease CTD_human Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. 22581230 2012
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease 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
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.100 Biomarker disease HPO
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.100 Biomarker disease HPO