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: 387733
Gene Symbol: IFITM5
IFITM5
interferon induced transmembrane protein 5 0.736 0.231 2.2E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 55262
Gene Symbol: MAP11
MAP11
microtubule associated protein 11 0.736 0.423 0.18
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 55325
Gene Symbol: UFSP2
UFSP2
UFM1 specific peptidase 2 0.736 0.192 3.1E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A
ribosomal protein L35a 0.736 0.385 0.90
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 643418
Gene Symbol: LIPN
LIPN
lipase family member N 0.736 0.423 3.1E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 80185
Gene Symbol: TTI2
TTI2
TELO2 interacting protein 2 0.736 0.346 3.6E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 51025
Gene Symbol: PAM16
PAM16
presequence translocase associated motor 16 0.729 0.462 0.24
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
TBC1 domain family member 23 0.729 0.308 1.8E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6204
Gene Symbol: RPS10
RPS10
ribosomal protein S10 0.729 0.462 0.97
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6235
Gene Symbol: RPS29
RPS29
ribosomal protein S29 0.729 0.423 0.29
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6307
Gene Symbol: MSMO1
MSMO1
methylsterol monooxygenase 1 0.729 0.385 9.0E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2
ATP synthase mitochondrial F1 complex assembly factor 2 0.729 0.423 2.2E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10283
Gene Symbol: CWC27
CWC27
CWC27 spliceosome associated cyclophilin 0.722 0.346 4.6E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 23310
Gene Symbol: NCAPD3
NCAPD3
non-SMC condensin II complex subunit D3 0.722 0.423 5.8E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 29927
Gene Symbol: SEC61A1
SEC61A1
SEC61 translocon subunit alpha 1 0.722 0.500 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 339983
Gene Symbol: NAT8L
NAT8L
N-acetyltransferase 8 like 0.722 0.346 0.86
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 84919
Gene Symbol: PPP1R15B
PPP1R15B
protein phosphatase 1 regulatory subunit 15B 0.722 0.462 0.15
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 254394
Gene Symbol: MCM9
MCM9
minichromosome maintenance 9 homologous recombination repair factor 0.716 0.346 6.6E-14
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
tubulin gamma complex associated protein 4 0.716 0.346 3.7E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 3739
Gene Symbol: KCNA4
KCNA4
potassium voltage-gated channel subfamily A member 4 0.716 0.423 0.98
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 51506
Gene Symbol: UFC1
UFC1
ubiquitin-fold modifier conjugating enzyme 1 0.716 0.462 3.6E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 55081
Gene Symbol: IFT57
IFT57
intraflagellar transport 57 0.716 0.308 3.3E-10
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6231
Gene Symbol: RPS26
RPS26
ribosomal protein S26 0.716 0.538 0.85
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6884
Gene Symbol: TAF13
TAF13
TATA-box binding protein associated factor 13 0.716 0.385 1.6E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0