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: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 8 5 0.900 strong 0.929 14 2 2005 2018
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: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 2018 2019
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.400 None 1.000 2 1 2012 2014
CUI: C1852453
Disease: Cryptophthalmos, Unilateral or Bilateral, Isolated
Cryptophthalmos, Unilateral or Bilateral, Isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 4 0.600 None 1.000 2 4 2018 2019
CUI: C4305274
Disease: Isolated cryptophthalmos
Isolated cryptophthalmos 		disease Congenital Abnormality 1 1 0.020 None 1.000 2 1 2018 2019
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 3 12 0.300 None 1.000 2 2005 2008
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.010 None 1.000 1 2019 2019
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.100 None 1.000 1 1 2009 2009
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		disease Mental Disorders Mental or Behavioral Dysfunction 33 20 0.100 None 1.000 1 1 2016 2016
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.300 strong 1.000 1 2005 2005
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 strong 1.000 1 2005 2005
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		disease Neoplasms Neoplastic Process 80 5 0.010 None 1.000 1 2012 2012
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.110 None 1.000 1 3 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2018 2018
CUI: C0311249
Disease: Cryptophthalmos
Cryptophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 1 0.110 None 1.000 1 1 2011 2011
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2011 2011
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma 		disease Neoplasms Neoplastic Process 44 5 0.010 None 1.000 1 2012 2012
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.110 None 1.000 1 2011 2011
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.010 None 1.000 1 2011 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2018 2018
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 3 3 0.300 strong 1.000 1 2005 2005
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma 		disease Neoplasms Neoplastic Process 44 5 0.010 None 1.000 1 2012 2012
CUI: C4303547
Disease: BNAR syndrome
BNAR syndrome 		disease Disease or Syndrome 3 0.010 None 1.000 1 2011 2011