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: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 51230
Gene Symbol: PHF20
PHF20 		PHD finger protein 20 0.650 0.615 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 3
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 503834
Gene Symbol: DPRX
DPRX 		divergent-paired related homeobox 2.4E-06
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 5434
Gene Symbol: POLR2E
POLR2E 		RNA polymerase II subunit E 0.736 0.192 7.2E-09
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: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
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: 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: 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: 5007
Gene Symbol: OSBP
OSBP 		oxysterol binding protein 0.705 0.346 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B 		signal transducer and activator of transcription 5B 0.442 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 8632
Gene Symbol: DNAH17
DNAH17 		dynein axonemal heavy chain 17 0.839 0.154 2.0E-63
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1 		RUNX1 partner transcriptional co-repressor 1 0.530 0.808 0.98
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 8532
Gene Symbol: CPZ
CPZ 		carboxypeptidase Z 0.839 0.154 8.8E-36
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 85015
Gene Symbol: USP45
USP45 		ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 4
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1