Source: BEFREE

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: 2318
Gene Symbol: FLNC
FLNC 		filamin C 0.568 0.615 1.00
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		disease 0.910 definitive 1.000 1 0 1998 2018
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		PHD finger protein 8 0.631 0.577 1.00
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
Siderius X-linked mental retardation syndrome 		disease 0.910 definitive 1.000 1 0 2005 2018
Entrez Id: 117531
Gene Symbol: TMC1
TMC1 		transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C1847626
Disease: Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 36 		disease 0.910 strong 1.000 1 1 1980 2014
Entrez Id: 51185
Gene Symbol: CRBN
CRBN 		cereblon 0.551 0.654 2.9E-04
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		disease 0.910 None 0.857 1 0 2004 2019
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		docking protein 7 0.615 0.615 1.0E-04
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		disease 0.910 strong 1.000 1 0 1990 2018
Entrez Id: 10117
Gene Symbol: ENAM
ENAM 		enamelin 0.674 0.346 1.3E-12
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		disease 0.910 strong 1.000 1 0 2001 2017
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C3280428
Disease: Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-Methylacyl-CoA Racemase Deficiency 		disease 0.910 strong 1.000 1 1 2000 2016
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		serpin family H member 1 0.545 0.769 2.8E-02
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		disease 0.910 strong 1.000 1 0 2010 2018
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1 		forkhead box N1 0.615 0.654 0.94
CUI: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		disease 0.910 None 1.000 1 0 1966 2014
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA 		endothelin receptor type A 0.426 0.885 0.99
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 		disease 0.910 strong 1.000 1 1 2010 2016
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		disease 0.910 None 1.000 1 0 2001 2019
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		disease 0.910 None 1.000 1 0 1989 2013
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		disease 0.910 None 1.000 1 0 2001 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		disease 0.910 None 1.000 1 0 1999 2019
Entrez Id: 340990
Gene Symbol: OTOG
OTOG 		otogelin 0.805 0.231 6.6E-37
CUI: C3554163
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B 		disease 0.910 strong 1.000 1 0 1997 2015
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		leucine rich repeat and sterile alpha motif containing 1 0.638 0.500 3.1E-13
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		disease 0.910 strong 1.000 1 0 2010 2019
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		disease 0.910 None 1.000 1 2 2000 2017
Entrez Id: 8192
Gene Symbol: CLPP
CLPP 		caseinolytic mitochondrial matrix peptidase proteolytic subunit 0.722 0.423 0.57
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		disease 0.910 definitive 1.000 1 0 1995 2018
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1 		solute carrier family 1 member 1 0.561 0.654 8.7E-06
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		disease 0.910 limited 1.000 1 1 1992 2011
Entrez Id: 167691
Gene Symbol: LCA5
LCA5 		lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		disease 0.910 None 1.000 1 0 2007 2017
Entrez Id: 7809
Gene Symbol: BSND
BSND 		barttin CLCNK type accessory subunit beta 0.603 0.692 1.1E-10
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		disease 0.910 definitive 1.000 1 1 1998 2017
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease 0.910 limited 1.000 1 0 1985 2016
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		ganglioside induced differentiation associated protein 1 0.612 0.538 3.2E-08
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		disease 0.910 None 1.000 1 0 1985 2017
Entrez Id: 246213
Gene Symbol: SLC17A8
SLC17A8 		solute carrier family 17 member 8 0.729 0.462 1.3E-03
CUI: C1854158
Disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) 		disease 0.910 strong 1.000 1 0 2008 2018
Entrez Id: 10978
Gene Symbol: CLP1
CLP1 		cleavage factor polyribonucleotide kinase subunit 1 0.700 0.385 0.20
CUI: C4014347
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 		disease 0.910 None 1.000 1 0 2013 2018