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: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
stromal antigen 2 0.568 0.731 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1
CCR4-NOT transcription complex subunit 1 0.674 0.577 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23135
Gene Symbol: KDM6B
KDM6B
lysine demethylase 6B 0.514 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 1.000 0 0 2016 2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
SIN3 transcription regulator family member A 0.551 0.692 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 1.000 0 0 2019 2019
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.700 0.500 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0