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: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease 1.000 None 0.982 26 4 1968 2019
Entrez Id: 4284
Gene Symbol: MIP
MIP 		major intrinsic protein of lens fiber 0.507 0.846 3.1E-02
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.390 None 1.000 9 2 1968 2018
Entrez Id: 440
Gene Symbol: ASNS
ASNS 		asparagine synthetase (glutamine-hydrolyzing) 0.595 0.692 9.4E-06
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		disease 0.730 definitive 1.000 3 2 1968 2019
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease 0.720 moderate 1.000 2 0 1968 2016
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1 		carnosine dipeptidase 1 0.656 0.538 1.2E-09
CUI: C3495555
Disease: Carnosinemia
Carnosinemia 		disease 0.310 None 0.500 1 0 1968 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		group 0.500 None 1.000 27 3 1969 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.800 None 0.929 21 2 1969 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS 		spermine synthase 0.491 0.846 0.97
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		disease 0.800 definitive 1.000 16 3 1969 2019
Entrez Id: 10913
Gene Symbol: EDAR
EDAR 		ectodysplasin A receptor 0.623 0.423 1.3E-06
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease 0.400 None 0.957 16 0 1969 2019
Entrez Id: 6898
Gene Symbol: TAT
TAT 		tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease 0.800 definitive 1.000 14 0 1969 2019
Entrez Id: 434
Gene Symbol: ASIP
ASIP 		agouti signaling protein 0.584 0.692 1.6E-02
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.230 None 1.000 3 0 1969 2019
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2 		3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		disease 0.920 None 1.000 2 1 1969 2015
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease 1.000 None 0.966 170 18 1970 2019
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		disease 0.600 None 0.955 124 6 1970 2019
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease 1.000 None 1.000 103 7 1970 2020
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease 0.800 strong 0.993 71 8 1970 2020
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease 0.800 None 0.963 51 7 1970 2019
Entrez Id: 8241
Gene Symbol: RBM10
RBM10 		RNA binding motif protein 10 0.599 0.615 1.00
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		disease 0.770 None 1.000 7 0 1970 2018
Entrez Id: 5255
Gene Symbol: PHKA1
PHKA1 		phosphorylase kinase regulatory subunit alpha 1 0.839 0.115 2.1E-07
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.220 None 1.000 2 0 1970 2014
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0235574
Disease: Intravascular hemolysis
Intravascular hemolysis 		disease 0.310 None 1.000 1 0 1970 2019
Entrez Id: 3630
Gene Symbol: INS
INS 		insulin 0.445 0.923 0.30
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.510 None 1.000 1 0 1970 2015
Entrez Id: 2990
Gene Symbol: GUSB
GUSB 		glucuronidase beta 0.530 0.846 4.0E-08
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 0.010 None 1.000 1 0 1970 1970
Entrez Id: 2743
Gene Symbol: GLRB
GLRB 		glycine receptor beta 0.705 0.308 1.4E-03
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease 0.510 None 1.000 1 0 1970 2012
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1 		serpin family G member 1 0.507 0.769 0.96
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease 0.600 strong 0.991 329 2 1971 2020
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		disease 0.500 None 0.970 195 13 1971 2020