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: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1262477
Disease: Weight decreased
Weight decreased
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: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 57338
Gene Symbol: JPH3
JPH3
junctophilin 3 0.608 0.538 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 55249
Gene Symbol: YY1AP1
YY1AP1
YY1 associated protein 1 0.711 0.462 1.9E-18
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
PLAG1 like zinc finger 1 0.566 0.769 0.98
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
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: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 51574
Gene Symbol: LARP7
LARP7
La ribonucleoprotein 7, transcriptional regulator 0.674 0.615 9.3E-08
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 4926
Gene Symbol: NUMA1
NUMA1
nuclear mitotic apparatus protein 1 0.644 0.577 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 4902
Gene Symbol: NRTN
NRTN
neurturin 0.686 0.538 3.0E-02
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 4869
Gene Symbol: NPM1
NPM1
nucleophosmin 1 0.464 0.846 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 4665
Gene Symbol: NAB2
NAB2
NGFI-A binding protein 2 0.641 0.577 0.57
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 5371
Gene Symbol: PML
PML
promyelocytic leukemia 0.477 0.846 0.21
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
PMS1 homolog 1, mismatch repair system component 0.569 0.654 1.3E-17
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.551 0.731 5.9E-23
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0