MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 CausalMutation disease CLINVAR
CUI: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		0.740 Biomarker disease CTD_human
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 Biomarker disease CTD_human
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.720 Biomarker disease MGD
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		0.400 Biomarker disease CTD_human
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		0.400 Biomarker disease CTD_human
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.300 Biomarker disease CTD_human
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.100 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO