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: 9464
Gene Symbol: HAND2
HAND2
heart and neural crest derivatives expressed 2 0.612 0.500 0.40
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.020 None 1.000 2 0 2012 2019
Entrez Id: 22858
Gene Symbol: CILK1
CILK1
ciliogenesis associated kinase 1 0.545 0.808 1.3E-05
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23543
Gene Symbol: RBFOX2
RBFOX2
RNA binding fox-1 homolog 2 0.590 0.846 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8823
Gene Symbol: FGF16
FGF16
fibroblast growth factor 16 0.751 0.423 0.75
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1
multimerin 1 0.465 0.846 2.1E-25
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8100
Gene Symbol: IFT88
IFT88
intraflagellar transport 88 0.621 0.654 7.1E-11
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2615
Gene Symbol: LRRC32
LRRC32
leucine rich repeat containing 32 0.619 0.577 1.1E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.110 None 1.000 1 1 2019 2019
Entrez Id: 80070
Gene Symbol: ADAMTS20
ADAMTS20
ADAM metallopeptidase with thrombospondin type 1 motif 20 0.760 0.385 4.5E-38
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
GLI family zinc finger 1 0.431 0.846 7.7E-14
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A
kinesin family member 3A 0.612 0.615 0.90
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 442919
Gene Symbol: MIR374A
MIR374A
microRNA 374a 0.617 0.615
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 442890
Gene Symbol: MIR133B
MIR133B
microRNA 133b 0.555 0.808
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100616113
Gene Symbol: MIR4680
MIR4680
microRNA 4680 0.890 0.192
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4092
Gene Symbol: SMAD7
SMAD7
SMAD family member 7 0.470 0.769 0.55
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 81037
Gene Symbol: CLPTM1L
CLPTM1L
CLPTM1 like 0.551 0.654 4.4E-05
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 635
Gene Symbol: BHMT
BHMT
betaine--homocysteine S-methyltransferase 0.595 0.731 3.7E-14
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 56999
Gene Symbol: ADAMTS9
ADAMTS9
ADAM metallopeptidase with thrombospondin type 1 motif 9 0.633 0.692 1.0E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.060 None 1.000 6 0 2001 2018
Entrez Id: 4807
Gene Symbol: NHLH1
NHLH1
nescient helix-loop-helix 1 0.686 0.538 0.26
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.050 None 1.000 5 0 2009 2018