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: 6809
Gene Symbol: STX3
STX3 		syntaxin 3 0.769 0.423 4.1E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 11231
Gene Symbol: SEC63
SEC63 		SEC63 homolog, protein translocation regulator 0.736 0.308 2.1E-07
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 65992
Gene Symbol: DDRGK1
DDRGK1 		DDRGK domain containing 1 0.736 0.269 3.1E-07
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 2038
Gene Symbol: EPB42
EPB42 		erythrocyte membrane protein band 4.2 0.729 0.269 9.9E-09
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU 		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.716 0.385 1.5E-16
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 389434
Gene Symbol: IYD
IYD 		iodotyrosine deiodinase 0.700 0.500 4.1E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 405753
Gene Symbol: DUOXA2
DUOXA2 		dual oxidase maturation factor 2 0.700 0.423 1.3E-15
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: 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: 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: 5589
Gene Symbol: PRKCSH
PRKCSH 		protein kinase C substrate 80K-H 0.674 0.538 1.0E-07
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 7252
Gene Symbol: TSHB
TSHB 		thyroid stimulating hormone subunit beta 0.670 0.538 8.4E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3 		transportin 3 0.663 0.577 1.8E-06
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: 145873
Gene Symbol: MESP2
MESP2 		mesoderm posterior bHLH transcription factor 2 0.653 0.462 3.1E-06
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 6710
Gene Symbol: SPTB
SPTB 		spectrin beta, erythrocytic 0.650 0.462 1.00
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 25802
Gene Symbol: LMOD1
LMOD1 		leiomodin 1 0.644 0.654 0.87
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 8022
Gene Symbol: LHX3
LHX3 		LIM homeobox 3 0.644 0.462 1.1E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B 		myosin VB 0.641 0.731 3.4E-23
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A 		tetratricopeptide repeat domain 7A 0.641 0.577 1.5E-31
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1 		spectrin alpha, erythrocytic 1 0.638 0.538 2.6E-18
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: 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: 712
Gene Symbol: C1QA
C1QA 		complement C1q A chain 0.623 0.654 3.8E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 0