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: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 1.000 2 1 2011 2014
Entrez Id: 50846
Gene Symbol: DHH
DHH
desert hedgehog signaling molecule 0.650 0.423 0.22
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1 0.631 0.615 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 2
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
steroid 5 alpha-reductase 2 0.564 0.615
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 745
Gene Symbol: MYRF
MYRF
myelin regulatory factor 0.584 0.731 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 746
Gene Symbol: TMEM258
TMEM258
transmembrane protein 258 0.644 0.654 1.9E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
tubulin alpha 1a 0.597 0.769 0.97
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 2
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 1