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: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		SIN3 transcription regulator family member A 0.551 0.692 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5859
Gene Symbol: QARS1
QARS1 		glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0575802
Disease: Small hand
Small hand 		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: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		phosphofurin acidic cluster sorting protein 1 0.603 0.615 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 473
Gene Symbol: RERE
RERE 		arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		chimerin 1 0.573 0.615 3.1E-02
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2