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: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.707 0.172 0.13
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.707 0.207 1.5E-06
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.743 0.207 0.71
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.762 0.241 2.3E-13
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
PHD finger protein 21A 0.762 0.241 1.00
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
adhesion G protein-coupled receptor G6 0.785 0.241
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 199221
Gene Symbol: DZIP1L
DZIP1L
DAZ interacting zinc finger protein 1 like 0.785 0.241 2.9E-25
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
myosin heavy chain 8 0.735 0.276 1.4E-50
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
SPEG complex locus 0.707 0.276 0.83
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 55640
Gene Symbol: FLVCR2
FLVCR2
feline leukemia virus subgroup C cellular receptor family member 2 0.785 0.276 3.5E-06
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1 0.773 0.276 2.1E-08
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 121340
Gene Symbol: SP7
SP7
Sp7 transcription factor 0.727 0.276 0.58
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.720 0.276 7.4E-03
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
thioredoxin like 4A 0.727 0.310 7.3E-05
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK
dual serine/threonine and tyrosine protein kinase 0.743 0.310 0.87
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.707 0.310 4.5E-16
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B, regulator of nonsense mediated mRNA decay 0.701 0.310 1.00
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 1349
Gene Symbol: COX7B
COX7B
cytochrome c oxidase subunit 7B 0.707 0.345 0.68
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 3188
Gene Symbol: HNRNPH2
HNRNPH2
heterogeneous nuclear ribonucleoprotein H2 0.672 0.345 0.96
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 5083
Gene Symbol: PAX9
PAX9
paired box 9 0.681 0.345 0.30
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.713 0.345 0.69
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.681 0.345 1.1E-06
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.611 0.345 1.00
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
ring finger protein, LIM domain interacting 0.773 0.345 0.99
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0
Entrez Id: 60386
Gene Symbol: SLC25A19
SLC25A19
solute carrier family 25 member 19 0.685 0.345 0.58
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype 0.100 0 0