FERMT1, fermitin family member 1, 55612

N. diseases: 98; N. variants: 22
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: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 14 21 1.000 0.935 38 21 1993 2017
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 34 0.300 strong 4 2003 2017
Hereditary acrokeratotic poikiloderma of Weary
disease Disease or Syndrome 1 0.300 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma
disease Disease or Syndrome 19 0.170 1.000 7 2004 2016
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.110 1.000 2 1 2013 2017
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 607 6 0.110 1.000 1 2008 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 911 956 0.100 1 1 2017 2017
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis
disease Congenital Abnormality 5 0.100 0
CUI: C0334166
Disease: Pseudoainhum
Pseudoainhum
disease Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.100 0
CUI: C0152454
Disease: Symblepharon
Symblepharon
phenotype Pathologic Function 1 0.100 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
phenotype Anatomical Abnormality 45 3 0.100 0
CUI: C0332563
Disease: Papule
Papule
phenotype Finding 62 1 0.100 0
Abnormal pigmentation of the oral mucosa
phenotype Finding 2 0.100 0
CUI: C3551426
Disease: Dystrophic fingernails
Dystrophic fingernails
phenotype Finding 21 0.100 0
Precocious exfoliation of primary tooth
phenotype Finding 17 0.100 0
CUI: C3806179
Disease: Spotty hyperpigmentation
Spotty hyperpigmentation
phenotype Finding 3 0.100 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital Abnormality 72 4 0.100 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 21 1 0.100 0
CUI: C0241157
Disease: pustule
pustule
phenotype Finding 12 0.100 0
CUI: C0241054
Disease: Skin bullae
Skin bullae
phenotype Finding 67 6 0.100 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
phenotype Anatomical Abnormality 24 0.100 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 72 0.100 0
CUI: C1704317
Disease: Leukokeratosis
Leukokeratosis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Anatomical Abnormality 24 0.100 0
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.100 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Finding 72 0.100 0