FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
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 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 21 25 1.000 None 0.957 46 25 2003 2019
CUI: C0392777
Disease: Poikiloderma
Poikiloderma
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.170 None 1.000 7 2004 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.130 None 1.000 3 2013 2017
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.130 None 1.000 3 2008 2011
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.110 None 1.000 2 1 2012 2017
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.110 None 1.000 1 2007 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 1 1 2017 2017
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0392163
Disease: Corneal erosion
Corneal erosion
disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
Precocious exfoliation of primary tooth
phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 26 5 0.100 None 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Finding 75 10 0.100 None 0
CUI: C0152454
Disease: Symblepharon
Symblepharon
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 1 0.100 None 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.100 None 0
CUI: C0041971
Disease: Urethral Neoplasms
Urethral Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture
disease Digestive System Diseases Disease or Syndrome 20 2 0.100 None 0
CUI: C4476927
Disease: Acral blistering
Acral blistering
phenotype Finding 1 0.100 None 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0