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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 9210
Gene Symbol: BMP15
BMP15
bone morphogenetic protein 15 0.659 0.385 1.8E-04
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: 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: 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: 89884
Gene Symbol: LHX4
LHX4
LIM homeobox 4 0.621 0.462 1.8E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
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: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.653 0.500 2.7E-27
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: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 58524
Gene Symbol: DMRT3
DMRT3
doublesex and mab-3 related transcription factor 3 0.653 0.500 6.2E-06
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: 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