Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		Q9UMN6 lysine methyltransferase 2B 70 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 49 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		Q9GZN7 rogdi atypical leucine zipper 35 0.663 0.462 2.6E-09 0.100 None 0 2
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		P35716 SRY-box transcription factor 11 Transcription factor 20 0.494 0.808 0.86 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 45 0.491 0.846 1.00 0.100 None 0 2
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		Q9BY41 histone deacetylase 8 Epigenetic regulator 35 0.511 0.885 0.98 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		P29033 gap junction protein beta 2 Cell-cell junction 62 0.441 0.846 6.6E-16 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.100 None 0 2