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: 9990
Gene Symbol: SLC12A6
SLC12A6
solute carrier family 12 member 6 0.603 0.500 1.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
lysine methyltransferase 2C 0.558 0.692 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 2
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 90381
Gene Symbol: TICRR
TICRR
TOPBP1 interacting checkpoint and replication regulator 0.769 0.423 7.2E-14
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.477 0.808 0.73
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 1