Source: ORPHANET

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: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.500 None 1.000 0 0 2009 2009
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.400 None 1.000 1 0 2018 2018
Entrez Id: 2492
Gene Symbol: FSHR
FSHR 		follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.310 None 1.000 3 0 1995 2003
Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H 		RNA polymerase III subunit H 0.769 0.346 6.0E-03
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 23514
Gene Symbol: SPIDR
SPIDR 		scaffold protein involved in DNA repair 0.700 0.538 2.4E-17
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP 		PSMC3 interacting protein 0.659 0.500 3.8E-05
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		nucleoporin 107 0.595 0.500 2.6E-09
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9210
Gene Symbol: BMP15
BMP15 		bone morphogenetic protein 15 0.659 0.385 1.8E-04
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		disease 0.300 None 1.000 1 0 2004 2004