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: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
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: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 8406
Gene Symbol: SRPX
SRPX
sushi repeat containing protein X-linked 0.653 0.577 3.1E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
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: 8467
Gene Symbol: SMARCA5
SMARCA5
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 0.670 0.500 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 23428
Gene Symbol: SLC7A8
SLC7A8
solute carrier family 7 member 8 0.743 0.423 5.1E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10998
Gene Symbol: SLC27A5
SLC27A5
solute carrier family 27 member 5 0.563 0.769 8.4E-15
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2009 2012
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2019 2019
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: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 6098
Gene Symbol: ROS1
ROS1
ROS proto-oncogene 1, receptor tyrosine kinase 0.439 0.885 1.6E-72
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
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: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1