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: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 1.000 1 0 1997 1997
Entrez Id: 344167
Gene Symbol: FOXI3
FOXI3
forkhead box I3 0.805 0.308
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 0 0
Entrez Id: 3166
Gene Symbol: HMX1
HMX1
H6 family homeobox 1 0.729 0.346 0.73
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.320 strong 1.000 3 0 1997 2020
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2
homeobox A2 0.700 0.385 0.20
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.450 None 1.000 5 0 2008 2017
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1
LMBR1 domain containing 1 0.716 0.385 9.0E-11
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 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: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 90161
Gene Symbol: HS6ST2
HS6ST2
heparan sulfate 6-O-sulfotransferase 2 0.729 0.423 1.0E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.410 strong 1.000 2 0 1997 2013
Entrez Id: 51025
Gene Symbol: PAM16
PAM16
presequence translocase associated motor 16 0.729 0.462 0.24
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
SIX homeobox 5 0.666 0.500 6.9E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 moderate 1.000 1 0 1999 1999
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1998 1998
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
POC1 centriolar protein A 0.650 0.500 3.3E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
growth differentiation factor 6 0.587 0.500 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 moderate 0 0
Entrez Id: 90121
Gene Symbol: TSR2
TSR2
TSR2 ribosome maturation factor 0.743 0.500 0.80
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
RNA polymerase I subunit A 0.682 0.538 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3
beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
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: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.310 limited 1.000 1 0 2014 2014
Entrez Id: 23594
Gene Symbol: ORC6
ORC6
origin recognition complex subunit 6 0.628 0.577 3.4E-07
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1994 1994
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 2005 2005
Entrez Id: 653
Gene Symbol: BMP5
BMP5
bone morphogenetic protein 5 0.653 0.577 9.0E-04
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.310 limited 1.000 1 0 2009 2009
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.582 0.577 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1994 1994
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1
CCR4-NOT transcription complex subunit 1 0.674 0.577 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0