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: 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: C0152454
Disease: Symblepharon
Symblepharon
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 1 0.100 None 0
Telangiectases in sun-exposed and nonexposed skin
phenotype Finding 1 0.100 None 0
CUI: C4476927
Disease: Acral blistering
Acral blistering
phenotype Finding 1 0.100 None 0
CUI: C4024863
Disease: Diffuse skin atrophy
Diffuse skin atrophy
disease Disease or Syndrome 3 0.100 None 0
CUI: C0031762
Disease: Photosensitivity Disorders
Photosensitivity Disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 2004 2004
CUI: C3806179
Disease: Spotty hyperpigmentation
Spotty hyperpigmentation
phenotype Finding 5 0.100 None 0
CUI: C0031538
Disease: Phimosis
Phimosis
phenotype Male Urogenital Diseases Finding 6 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: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation
phenotype Finding 6 1 0.100 None 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal
phenotype Finding 10 3 0.100 None 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 11 0.100 None 0
Congenital leukocyte adherence deficiency
disease Disease or Syndrome 14 12 0.010 None < 0.001 1 2010 2010
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal
phenotype Finding 14 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
CUI: C0007971
Disease: Cheilitis
Cheilitis
disease Stomatognathic Diseases Disease or Syndrome 17 9 0.100 None 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.170 None 1.000 7 2004 2015
Precocious exfoliation of primary tooth
phenotype Stomatognathic Diseases Finding 20 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
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture
disease Digestive System Diseases Disease or Syndrome 20 2 0.100 None 0
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: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 26 5 0.100 None 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin
phenotype Finding 29 0.100 None 0