DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 54 0.960 strong 0.971 34 54 1999 2019
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 69 0.900 strong 1.000 29 69 1999 2019
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 7 0.720 strong 1.000 7 7 2002 2019
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 		disease Disease or Syndrome 1 8 0.700 strong 1.000 6 8 2006 2019
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 4 0.600 strong 1.000 5 4 2011 2019
CUI: C0543816
Disease: Progressive cardiomyopathic lentiginosis syndrome
Progressive cardiomyopathic lentiginosis syndrome 		disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1739133
Disease: Mucocutaneous herpes simplex
Mucocutaneous herpes simplex 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1843294
Disease: Palmoplantar keratosis with erythema and scale
Palmoplantar keratosis with erythema and scale 		phenotype Finding 1 0.100 None 0
CUI: C1969237
Disease: Tapered distal phalanges of finger
Tapered distal phalanges of finger 		phenotype Finding 1 0.100 None 0
CUI: C4703660
Disease: Increased troponin I level in blood
Increased troponin I level in blood 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 5 0.740 strong 1.000 9 5 2005 2019
CUI: C0740281
Disease: Multiple allergies
Multiple allergies 		disease Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C1858302
Disease: Ectodermal dysplasia/ skin fragility syndrome
Ectodermal dysplasia/ skin fragility syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.310 limited 1.000 1 2009 2009
CUI: C0265992
Disease: alopecia congenita
alopecia congenita 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C3495530
Disease: Congenital alopecia X-linked
Congenital alopecia X-linked 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C4015202
Disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2009 2009
CUI: C1969238
Disease: Widely spaced toes
Widely spaced toes 		phenotype Finding 3 0.100 None 0
CUI: C4227331
Disease: Cardiomyocyte hypertrophy
Cardiomyocyte hypertrophy 		phenotype Finding 3 0.100 None 0
CUI: C1832600
Disease: Naxos disease
Naxos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 4 7 0.030 None 1.000 3 2005 2006
CUI: C3809719
Disease: Severe dermatitis, multiple allergies, metabolic wasting syndrome
Severe dermatitis, multiple allergies, metabolic wasting syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 2 0.320 None 1.000 3 2015 2019
CUI: C0151295
Disease: Mononeuritis Multiplex
Mononeuritis Multiplex 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C0348617
Disease: Other cardiomyopathies
Other cardiomyopathies 		disease Cardiovascular Diseases Disease or Syndrome 4 0.200 None 0
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 1 0.350 None 1.000 6 1999 2009
CUI: C1333292
Disease: Diffuse infiltrative lymphocytosis syndrome
Diffuse infiltrative lymphocytosis syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 1998 1998
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 5 71 0.100 None 0 2