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: 79048
Gene Symbol: SECISBP2
SECISBP2
SECIS binding protein 2 0.792 0.269 2.2E-18
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 10940
Gene Symbol: POP1
POP1
POP1 homolog, ribonuclease P/MRP subunit 0.743 0.346 2.8E-13
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
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: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 6307
Gene Symbol: MSMO1
MSMO1
methylsterol monooxygenase 1 0.729 0.385 9.0E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 11342
Gene Symbol: RNF13
RNF13
ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
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: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55081
Gene Symbol: IFT57
IFT57
intraflagellar transport 57 0.716 0.308 3.3E-10
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
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: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 84701
Gene Symbol: COX4I2
COX4I2
cytochrome c oxidase subunit 4I2 0.716 0.500 1.4E-04
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 402381
Gene Symbol: SOHLH1
SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1 0.705 0.269 2.3E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1
ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 23514
Gene Symbol: SPIDR
SPIDR
scaffold protein involved in DNA repair 0.700 0.538 2.4E-17
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma 0.700 0.538 6.8E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
SprT-like N-terminal domain 0.691 0.500 0.97
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 1.000 0 0 2019 2019
Entrez Id: 10056
Gene Symbol: FARSB
FARSB
phenylalanyl-tRNA synthetase subunit beta 0.682 0.500 3.3E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 55131
Gene Symbol: RBM28
RBM28
RNA binding motif protein 28 0.682 0.423 6.2E-12
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L
cytoskeleton associated protein 2 like 0.666 0.577 1.6E-04
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141
coiled-coil domain containing 141 0.666 0.538 1.6E-33
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 4509
Gene Symbol: ATP8
ATP8
ATP synthase F0 subunit 8 0.666 0.615
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
ATR interacting protein 0.666 0.692 2.0E-05
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 23767
Gene Symbol: FLRT3
FLRT3
fibronectin leucine rich transmembrane protein 3 0.659 0.615 0.22
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP
PSMC3 interacting protein 0.659 0.500 3.8E-05
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 51199
Gene Symbol: NIN
NIN
ninein 0.659 0.731 9.6E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0