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: 56945
Gene Symbol: MRPS22
MRPS22 		mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5859
Gene Symbol: QARS1
QARS1 		glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5915
Gene Symbol: RARB
RARB 		retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2 		double PHD fingers 2 0.604 0.731 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 1.000 0 0 2001 2009
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15 		kinesin family member 15 0.617 0.654 9.5E-25
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12 		proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6 		adhesion G protein-coupled receptor G6 0.666 0.385 6.6E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0