Source: CLINVAR

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: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 6098
Gene Symbol: ROS1
ROS1 		ROS proto-oncogene 1, receptor tyrosine kinase 0.439 0.885 1.6E-72
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A 		family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 64319
Gene Symbol: FBRS
FBRS 		fibrosin 0.653 0.654 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 4
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 55663
Gene Symbol: ZNF446
ZNF446 		zinc finger protein 446 5.7E-08
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 55558
Gene Symbol: PLXNA3
PLXNA3 		plexin A3 0.670 0.769 5.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 55253
Gene Symbol: TYW1
TYW1 		tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 55072
Gene Symbol: RNF31
RNF31 		ring finger protein 31 0.736 0.346 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3 		adhesion G protein-coupled receptor B3 0.736 0.192 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 56984
Gene Symbol: PSMG2
PSMG2 		proteasome assembly chaperone 2 0.839 0.115 2.4E-07
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 5834
Gene Symbol: PYGB
PYGB 		glycogen phosphorylase B 0.792 0.308 1.4E-14
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		THAP domain containing 11 0.769 0.346 0.83
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 57644
Gene Symbol: MYH7B
MYH7B 		myosin heavy chain 7B 0.792 0.308 4.3E-46
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2