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: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 1.000 1 1 2005 2005
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype 0.100 None 0 1