Source: ALL

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: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 1.000 14 0 1986 2019
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.170 None 1.000 7 0 1997 2014
Entrez Id: 4412
Gene Symbol: MRX49
MRX49
mental retardation, X-linked 49 0.821 0.385
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.020 None 1.000 2 0 1999 2008
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.120 None 1.000 2 0 2005 2015
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 100419006
Gene Symbol: NF1P1
NF1P1
neurofibromin 1 pseudogene 1 0.805 0.385
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10305
Gene Symbol: MMDK
MMDK
Mesomelic dysplasia, Kantaputra type 0.861 0.154
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR
H19/IGF2 imprinting control region 0.631 0.615
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
MT-CO2 pseudogene 12 0.368 0.962
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 115482685
Gene Symbol: H3P13
H3P13
H3 histone pseudogene 13 0.584 0.769
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3495
Gene Symbol: IGHD
IGHD
immunoglobulin heavy constant delta 0.722 0.346
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 406884
Gene Symbol: MIRLET7B
MIRLET7B
microRNA let-7b 0.493 0.769
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 406932
Gene Symbol: MIR140
MIR140
microRNA 140 0.522 0.769
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 1 0 2005 2005
Entrez Id: 470
Gene Symbol: ATHS
ATHS
atherosclerosis susceptibility (lipoprotein associated) 0.551 0.769
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 50966
Gene Symbol: ECA1
ECA1
epilepsy, childhood absence 1 0.805 0.231
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8231
Gene Symbol: CND
CND
Corneal dermoids 0.821 0.308
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 1981 1981
Entrez Id: 9077
Gene Symbol: DIRAS3
DIRAS3
DIRAS family GTPase 3 0.631 0.385
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100033413
Gene Symbol: SNORD116-1
SNORD116-1
small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
nuclear pore associated protein 1 0.670 0.500
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 338433
Gene Symbol: SNORD115-1
SNORD115-1
small nucleolar RNA, C/D box 115-1 0.682 0.423
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 3653
Gene Symbol: IPW
IPW
imprinted in Prader-Willi syndrome 0.682 0.423
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0