FERMT1, fermitin family member 1, 55612

N. diseases: 104; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241181
Disease: Fragile skin
Fragile skin 		0.100 Biomarker phenotype HPO
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		0.100 Biomarker phenotype HPO
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		0.100 Biomarker disease HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423820
Disease: Ridged nails
Ridged nails 		0.100 Biomarker phenotype HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		0.100 Biomarker disease HPO
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		0.100 Biomarker phenotype HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		0.100 Biomarker phenotype HPO
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		0.100 Biomarker phenotype HPO
CUI: C1868184
Disease: Telangiectases in sun-exposed and nonexposed skin
Telangiectases in sun-exposed and nonexposed skin 		0.100 Biomarker phenotype HPO
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.100 Biomarker phenotype HPO
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		0.100 Biomarker phenotype HPO
CUI: C3806179
Disease: Spotty hyperpigmentation
Spotty hyperpigmentation 		0.100 Biomarker phenotype HPO
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		0.100 Biomarker phenotype HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		0.100 Biomarker phenotype HPO
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.100 Biomarker group HPO
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		0.100 Biomarker phenotype HPO
CUI: C4024863
Disease: Diffuse skin atrophy
Diffuse skin atrophy 		0.100 Biomarker disease HPO
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		0.100 Biomarker disease HPO
CUI: C4476927
Disease: Acral blistering
Acral blistering 		0.100 Biomarker phenotype HPO
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		0.100 Biomarker disease HPO