Source: HPO

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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG
miR-17-92a-1 cluster host gene 0.483 0.808
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
KIAA0753 0.631 0.577 1.6E-28
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
kinesin family member 15 0.617 0.654 9.5E-25
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 3694
Gene Symbol: ITGB6
ITGB6
integrin subunit beta 6 0.597 0.692 1.6E-22
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0