COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
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: C0406369
Disease: Lichen planus pemphigoides
Lichen planus pemphigoides 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.030 None 1.000 3 1999 2005
CUI: C1304224
Disease: Pemphigoid nodularis
Pemphigoid nodularis 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C1336862
Disease: Parotid Gland Undifferentiated Carcinoma
Parotid Gland Undifferentiated Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C1866510
Disease: Discolored lateral incisors
Discolored lateral incisors 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2047516
Disease: Hyperkeratotic papule
Hyperkeratotic papule 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4304724
Disease: Late-onset junctional epidermolysis bullosa
Late-onset junctional epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0432326
Disease: Junctional epidermolysis bullosa mitis
Junctional epidermolysis bullosa mitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.050 None 1.000 5 1997 2001
CUI: C0406653
Disease: Eosinophilic spongiosis
Eosinophilic spongiosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4021157
Disease: Generalized abnormality of skin
Generalized abnormality of skin 		disease Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C0406650
Disease: Linear IgA Bullous Dermatosis
Linear IgA Bullous Dermatosis 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 4 0.060 None 1.000 6 1997 2017
CUI: C0745138
Disease: Hypertensive urgency
Hypertensive urgency 		disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 4 3 0.100 None 0
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		disease Disease or Syndrome 4 13 0.100 None 0 1
CUI: C1852551
Disease: Epithelial Recurrent Erosion Dystrophy
Epithelial Recurrent Erosion Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 2 0.750 strong 1.000 6 2 2003 2019
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 2 0.400 None 1.000 1 2 2014 2014
CUI: C1856953
Disease: Palmar hyperhidrosis
Palmar hyperhidrosis 		phenotype Skin and Connective Tissue Diseases Finding 5 0.100 None 0
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 35 0.700 strong 1.000 16 13 1996 2014
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.010 None 1.000 1 1999 1999
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		phenotype Finding 6 1 0.100 None 0 1
CUI: C0270814
Disease: Spastic syndrome
Spastic syndrome 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1992 1992
CUI: C0019343
Disease: Pemphigoid Gestationis
Pemphigoid Gestationis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.100 None 1.000 10 1990 2018
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1999 1999
CUI: C0406632
Disease: Autoimmune skin disease
Autoimmune skin disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2000 2000
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		group Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.020 None 1.000 2 2002 2018