GJB4, gap junction protein beta 4, 127534

N. diseases: 50; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.670 GeneticVariation disease CLINVAR
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.600 CausalMutation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.100 Biomarker group HPO
CUI: C0041834
Disease: Erythema
Erythema 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.100 Biomarker phenotype HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		0.100 Biomarker phenotype HPO
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.100 Biomarker phenotype HPO
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.100 Biomarker phenotype HPO