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: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.508 0.690 2.7E-23
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.552 0.586 8.9E-42
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 4 2015 2015
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.636 0.552 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.857 0.241 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 2
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 3 2015 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.584 0.517 1.8E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.443 0.793 0.71
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.541 0.759 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
mitochondrial methionyl-tRNA formyltransferase 0.743 0.241 4.4E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 9369
Gene Symbol: NRXN3
NRXN3
neurexin 3 0.696 0.379 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 2
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.652 0.414 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.672 0.379 5.6E-15
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS, ribosome maturation factor 0.616 0.552 3.5E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 2 2015 2015
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.663 0.586 2.3E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 2 2015 2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.536 0.655 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.514 0.793 1.9E-20
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 1 2015 2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.594 0.552 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.624 0.621 9.0E-45
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 1 2 2015 2015