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: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.720 0.276 2.9E-09
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
ubiquitin conjugating enzyme E2 T 0.681 0.448 1.2E-05
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.621 0.517 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.707 0.379 1.3E-06
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
phosphoserine aminotransferase 1 0.565 0.621 8.0E-09
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
downstream neighbor of SON 0.743 0.241 1.3E-07
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
EGF containing fibulin extracellular matrix protein 2 0.594 0.655 8.8E-03
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
NAD(P) dependent steroid dehydrogenase-like 0.667 0.483 0.97
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.690 0.552 1.6E-15
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.762 0.241 7.4E-03
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin, DNA replication inhibitor 0.604 0.655 0.12
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
WD repeat containing planar cell polarity effector 0.633 0.621 3.4E-10
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.690 0.379 4.8E-11
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 51124
Gene Symbol: IER3IP1
IER3IP1
immediate early response 3 interacting protein 1 0.707 0.310 2.7E-02
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.762 0.241 1.9E-07
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
tubulin gamma complex associated protein 4 0.713 0.345 4.5E-09
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
RNA polymerase I subunit A 0.752 0.379 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
POC1 centriolar protein A 0.696 0.414 3.5E-06
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.752 0.241 5.6E-32
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
SIN3 transcription regulator family member A 0.558 0.621 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.663 0.414 1.9E-13
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
C2 calcium dependent domain containing 3 0.685 0.483 5.1E-19
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
AUTS2, activator of transcription and developmental regulator 0.590 0.483 1.00
CUI: C0424688
Disease: Small head
Small head
phenotype 0.100 0 0