Source: CLINVAR

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: 283989
Gene Symbol: TSEN54
TSEN54
tRNA splicing endonuclease subunit 54 0.667 0.345 2.2E-07
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.541 0.759 0.99
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.857 0.241 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 3 2017 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.645 0.586
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
ankyrin repeat and LEM domain containing 2 0.713 0.379 1.4E-10
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 2 2015 2015
Entrez Id: 92154
Gene Symbol: MTSS1L
MTSS1L
MTSS1L, I-BAR domain containing 0.99
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.663 0.586 2.3E-06
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 2 2015 2015
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4
gem nuclear organelle associated protein 4 0.633 0.690 5.5E-13
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS, ribosome maturation factor 0.616 0.552 3.5E-04
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 2 2015 2015
Entrez Id: 51550
Gene Symbol: CINP
CINP
cyclin dependent kinase 2 interacting protein 0.886 0.138 5.9E-02
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2016 2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.546 0.828 0.98
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 56131
Gene Symbol: PCDHB4
PCDHB4
protocadherin beta 4 8.1E-12
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 9493
Gene Symbol: KIF23
KIF23
kinesin family member 23 0.727 0.207 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2016 2016
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.663 0.310 5.4E-17
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 8785
Gene Symbol: MATN4
MATN4
matrilin 4 0.886 0.241 2.4E-07
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX, chromatin remodeler 0.489 0.690 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 2 2016 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.552 0.586 8.9E-42
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 2 2015 2015
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.659 0.517 0.98
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.596 0.552 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.607 0.483 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 9 2016 2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.586 0.690 4.3E-48
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 3 2016 2016
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.624 0.621 9.0E-45
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 3 2015 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.502 0.759 2.6E-16
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 1 1 2015 2015