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: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 53834
Gene Symbol: FGFRL1
FGFRL1 		fibroblast growth factor receptor like 1 0.588 0.615 1.2E-02
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR 		cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C 		protein phosphatase 2 regulatory subunit B''gamma 0.700 0.538 6.8E-09
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1 		tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 57477
Gene Symbol: SHROOM4
SHROOM4 		shroom family member 4 0.700 0.500 1.00
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1 		nectin cell adhesion molecule 1 0.523 0.808 6.1E-02
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8 		RB binding protein 8, endonuclease 0.584 0.808 3.1E-12
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A 		family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335 		zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		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: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A 		phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 389856
Gene Symbol: USP27X
USP27X 		ubiquitin specific peptidase 27 X-linked 0.705 0.462 0.92
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0