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: 117581
Gene Symbol: TWIST2
TWIST2
twist family bHLH transcription factor 2 0.518 0.731 0.56
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
disease 0.730 strong 1.000 3 0 1963 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease 0.900 strong 0.982 688 87 1964 2020
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
endothelin 3 0.608 0.577 2.5E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease 0.700 None 1.000 17 2 1964 2011
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
disease 1.000 definitive 1.000 10 0 1964 2015
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
disease 0.260 None 1.000 6 0 1964 2017
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13
disease 0.930 None 1.000 3 0 1964 2016
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
disease 0.720 definitive 1.000 2 0 1964 2018
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
Pierre Robin syndrome with fetal chondrodysplasia
disease 0.820 definitive 1.000 2 0 1964 2015
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53
disease 0.710 None 1.000 1 0 1964 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 1.000 definitive 0.994 112 12 1965 2019
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
CUI: C0028754
Disease: Obesity
Obesity
disease 0.700 None 0.930 160 11 1966 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease 0.700 None 1.000 45 9 1966 2019
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.600 None 0.975 42 11 1966 2019
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.700 None 0.974 13 1 1966 2020
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID
disease 0.860 None 0.960 6 0 1966 2016
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
forkhead box N1 0.615 0.654 0.94
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease 0.230 None 1.000 3 0 1966 2020
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
glutamate-ammonia ligase 0.513 0.731 1.00
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital
disease 0.720 limited 1.000 2 2 1966 2019
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
forkhead box N1 0.615 0.654 0.94
T-cell immunodeficiency, congenital alopecia and nail dystrophy
disease 0.910 None 1.000 1 0 1966 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.992 414 35 1967 2020
Entrez Id: 3931
Gene Symbol: LCAT
LCAT
lecithin-cholesterol acyltransferase 0.588 0.654 8.1E-02
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency
disease 1.000 None 0.974 20 4 1967 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA
disease 1.000 None 1.000 18 1 1967 2019
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0003578
Disease: Apnea
Apnea
phenotype 0.400 None 1.000 16 1 1967 2018
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome
disease 0.940 None 1.000 4 0 1967 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0001916
Disease: Albinism
Albinism
disease 0.330 None 1.000 3 1 1967 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 1 0 1967 2017