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: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 10653
Gene Symbol: SPINT2
SPINT2 		serine peptidase inhibitor, Kunitz type 2 0.556 0.808 7.5E-04
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 2304
Gene Symbol: FOXE1
FOXE1 		forkhead box E1 0.573 0.731 0.79
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		aldolase, fructose-bisphosphate B 0.623 0.538 7.9E-07
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3 		solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3 		solute carrier family 9 member A3 0.612 0.615 0.98
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 3594
Gene Symbol: IL12RB1
IL12RB1 		interleukin 12 receptor subunit beta 1 0.555 0.731 9.4E-15
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 3643
Gene Symbol: INSR
INSR 		insulin receptor 0.432 0.846 3.6E-05
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2 		tectonic family member 2 0.578 0.654 1.8E-14
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2 		phosphorylase kinase regulatory subunit alpha 2 0.678 0.462 0.38
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2 		dual oxidase 2 0.533 0.769 4.5E-56
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B 		secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4 		EPH receptor B4 0.524 0.692 1.3E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 7067
Gene Symbol: THRA
THRA 		thyroid hormone receptor alpha 0.566 0.769 0.33
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 715
Gene Symbol: C1R
C1R 		complement C1r 0.638 0.654 0.78
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 6689
Gene Symbol: SPIB
SPIB 		Spi-B transcription factor 0.628 0.538 0.91
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0