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: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3 		arachidonate lipoxygenase 3 0.644 0.538 5.1E-20
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8 		RB binding protein 8, endonuclease 0.584 0.808 3.1E-12
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 59067
Gene Symbol: IL21
IL21 		interleukin 21 0.441 0.769 0.63
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C 		lysine methyltransferase 2C 0.558 0.692 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4 		NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0456070
Disease: Growth delay
Growth delay 		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: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6555
Gene Symbol: SLC10A2
SLC10A2 		solute carrier family 10 member 2 0.621 0.538 9.6E-17
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 64127
Gene Symbol: NOD2
NOD2 		nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D 		sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6204
Gene Symbol: RPS10
RPS10 		ribosomal protein S10 0.729 0.462 0.97
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0