Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease 1.000 definitive 0.985 37 6 1991 2020
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		disease 0.900 None 0.995 2 0 2003 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1 		disease 0.600 None 1.000 1 0 2003 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.500 None 0.965 5 0 1992 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 None 0.989 2 0 1992 2020
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.400 None 1.000 2 0 1995 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group 0.400 None 1.000 1 0 2003 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group 0.400 None 1.000 1 0 2002 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease 0.400 None 0.926 1 0 1994 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		disease 0.350 None 1.000 8 0 1995 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease 0.330 None 0.500 2 0 2009 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.330 None 1.000 1 0 2010 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease 0.310 None 1.000 8 0 1999 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease 0.310 None 0.500 2 0 2009 2015
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		disease 0.310 None 1.000 1 0 2009 2013
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype 0.310 None 1.000 1 0 2008 2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group 0.300 None 1.000 2 0 2006 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease 0.300 None 1.000 2 0 2004 2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype 0.300 None 1.000 2 0 2004 2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease 0.300 None 1.000 2 0 2004 2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C3494522
Disease: Hypergonadotropic Ovarian Failure, X-Linked
Hypergonadotropic Ovarian Failure, X-Linked 		disease 0.300 None 1.000 1 0 2003 2003
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C3275521
Disease: CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C2678248
Disease: Mood instability
Mood instability 		phenotype 0.300 None 1.000 1 0 2007 2007
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		disease 0.300 None 1.000 1 0 2017 2017