DSC3, desmocollin 3, 1825

N. diseases: 103; N. variants: 1
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: C0740364
Disease: Benign cyst of ovary
Benign cyst of ovary
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1 0.010 None 1.000 1 2015 2015
Hypotrichosis And Recurrent Skin Vesicles
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.710 limited 1.000 1 1 2009 2009
CUI: C0263316
Disease: Pemphigus vegetans
Pemphigus vegetans
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes
phenotype Finding 13 0.100 None 0
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2003 2003
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2012 2012
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 20 0.100 None 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair
phenotype Finding 39 0.100 None 0
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.010 None 1.000 1 2019 2019
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.010 None 1.000 1 2012 2012
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma
disease Neoplastic Process 51 1 0.010 None 1.000 1 2017 2017
CUI: C4288305
Disease: Recurrent Glioblastoma
Recurrent Glioblastoma
disease Neoplasms Neoplastic Process 51 1 0.010 None 1.000 1 2017 2017
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype Finding 52 0.100 None 0
CUI: C0862506
Disease: Borderline ovarian tumour
Borderline ovarian tumour
disease Neoplastic Process 54 0.010 None 1.000 1 2015 2015
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis
disease Infections; Nervous System Diseases Disease or Syndrome 59 9 0.010 None 1.000 1 2018 2018
CUI: C0030807
Disease: Pemphigus
Pemphigus
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 67 3 0.030 None 1.000 3 2017 2019
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.110 None 1.000 1 2012 2012
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
disease Neoplasms Neoplastic Process 79 9 0.010 None 1.000 1 2017 2017
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 79 4 0.010 None 1.000 1 2012 2012
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.040 None 1.000 4 2017 2019
CUI: C0011119
Disease: Decompression Sickness
Decompression Sickness
disease Wounds and Injuries Disease or Syndrome 98 0.010 None 1.000 1 2017 2017
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 115 39 0.010 None 1.000 1 2019 2019
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.040 None 1.000 4 2017 2019