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: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.644 0.769 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1
aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 415
Gene Symbol: ARSL
ARSL
arylsulfatase L 0.663 0.654 0.59
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
ATPase H+ transporting V1 subunit E1 0.610 0.769 0.53
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 168667
Gene Symbol: BMPER
BMPER
BMP binding endothelial regulator 0.641 0.577 6.6E-07
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0