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: 79912
Gene Symbol: PYROXD1
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 199221
Gene Symbol: DZIP1L
DZIP1L
DAZ interacting zinc finger protein 1 like 0.769 0.308 2.4E-25
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 10283
Gene Symbol: CWC27
CWC27
CWC27 spliceosome associated cyclophilin 0.722 0.346 4.6E-07
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 55640
Gene Symbol: FLVCR2
FLVCR2
FLVCR heme transporter 2 0.736 0.346 3.4E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
striated muscle enriched protein kinase 0.686 0.385 0.92
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
thioredoxin like 4A 0.711 0.385 7.2E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
myosin heavy chain 8 0.682 0.385 2.0E-51
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1
inositol monophosphatase domain containing 1 0.700 0.385 1.5E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
zinc finger protein 341 0.792 0.385 2.4E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1
family with sequence similarity 149 member B1 0.663 0.423 2.5E-13
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 348180
Gene Symbol: CTU2
CTU2
cytosolic thiouridylase subunit 2 0.695 0.423 4.0E-22
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3
leiomodin 3 0.700 0.423 1.6E-07
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1 0.700 0.423 0.65
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
signal sequence receptor subunit 4 0.705 0.423 0.87
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 114034
Gene Symbol: TOE1
TOE1
target of EGR1, exonuclease 0.682 0.462 6.0E-16
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0