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: 4337
Gene Symbol: MOCS1
MOCS1
molybdenum cofactor synthesis 1 0.743 0.231 9.1E-07
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14
mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 8812
Gene Symbol: CCNK
CCNK
cyclin K 0.792 0.231 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1
solute carrier family 45 member 1 0.674 0.269 2.5E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
collagen type XXVII alpha 1 chain 0.780 0.269 0.59
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 9853
Gene Symbol: RUSC2
RUSC2
RUN and SH3 domain containing 2 0.729 0.269 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
molybdenum cofactor synthesis 2 0.729 0.308 4.6E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
thioredoxin like 4A 0.711 0.385 7.2E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13
kelch repeat and BTB domain containing 13 0.729 0.385 2.3E-10
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
adhesion G protein-coupled receptor G6 0.666 0.385 6.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A
ribosomal protein L35a 0.736 0.385 0.90
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1
dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1
ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 10484
Gene Symbol: SEC23A
SEC23A
Sec23 homolog A, COPII coat complex component 0.659 0.423 1.1E-11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP
STAM binding protein 0.653 0.423 5.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
FRAS1 related extracellular matrix 1 0.633 0.423 1.6E-52
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
phosphatase and actin regulator 1 0.663 0.423 0.64
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0
Entrez Id: 23114
Gene Symbol: NFASC
NFASC
neurofascin 0.682 0.423 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype 0.100 None 0 0