Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.500 None 0.966 0 0 2002 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease 0.430 None 1.000 0 0 2017 2018
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.200 None 1.000 0 0 1999 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.140 None 1.000 0 0 2006 2015
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.130 None 1.000 0 0 1999 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		disease 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0343073
Disease: Wooly hair
Wooly hair 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C1843294
Disease: Palmoplantar keratosis with erythema and scale
Palmoplantar keratosis with erythema and scale 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4227331
Disease: Cardiomyocyte hypertrophy
Cardiomyocyte hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype 0.100 None 0 0