FREM2, FRAS1 related extracellular matrix 2, 341640

N. diseases: 103; N. variants: 16
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: C4540036
Disease: FRASER SYNDROME 2
FRASER SYNDROME 2 		disease Disease or Syndrome 1 6 0.800 strong 1.000 4 6 2005 2019
CUI: C4305274
Disease: Isolated cryptophthalmos
Isolated cryptophthalmos 		disease Congenital Abnormality 1 1 0.020 None 1.000 2 1 2018 2019
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C4303547
Disease: BNAR syndrome
BNAR syndrome 		disease Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		disease Congenital Abnormality 16 0.100 None 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		disease Congenital Abnormality 23 1 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1844537
Disease: Cleft ala nasi
Cleft ala nasi 		phenotype Finding 4 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1857190
Disease: Wide pubic symphysis
Wide pubic symphysis 		phenotype Finding 5 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype Finding 73 2 0.100 None 0 1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C2315717
Disease: Cryptotia
Cryptotia 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		disease Anatomical Abnormality 15 1 0.100 None 0
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		phenotype Finding 4 0.100 None 0
CUI: C4024757
Disease: Malformed lacrimal duct
Malformed lacrimal duct 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4024773
Disease: Lacrimal duct aplasia
Lacrimal duct aplasia 		disease Congenital Abnormality 3 0.100 None 0