Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 79631
Gene Symbol: EFL1
EFL1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 27152
Gene Symbol: INTU
INTU
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 9373
Gene Symbol: PLAA
PLAA
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 54872
Gene Symbol: PIGG
PIGG
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR

Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012