PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Disease: Pituitary Dwarfism Type 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917839
rs121917839 		0.925 0.120 5 177993032 missense variant G/A snv 6.8E-05 4.9E-05
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 12 1998 2009
dbSNP: rs121917840
rs121917840 		1.000 0.120 5 177993041 missense variant A/G;T snv 8.1E-06; 1.1E-04
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 12 1998 2011
dbSNP: rs121917843
rs121917843 		0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs121917841
rs121917841 		0.925 0.120 5 177994185 missense variant A/G snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 7 1998 2009
dbSNP: rs121917842
rs121917842 		1.000 0.120 5 177994230 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 7 1998 2009
dbSNP: rs137853100
rs137853100 		0.925 0.120 5 177994152 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 7 1998 2009
dbSNP: rs193922688
rs193922688 		1.000 0.120 5 177994146 frameshift variant TC/- delins 1.5E-04
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 12 1998 2016
dbSNP: rs146918863
rs146918863 		1.000 0.120 5 177993017 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 7 1998 2009
dbSNP: rs587776683
rs587776683 		1.000 0.120 5 177994298 frameshift variant T/- del 5.6E-05
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2011
dbSNP: rs1214465435
rs1214465435 		1.000 0.120 5 177995824 splice donor variant C/A snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2004 2017
dbSNP: rs121917844
rs121917844 		1.000 0.120 5 177994153 stop gained G/A snv 4.0E-06
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2006 2011
dbSNP: rs121917845
rs121917845 		1.000 0.120 5 177992808 stop gained C/T snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2005 2010
dbSNP: rs766673446
rs766673446 		1.000 0.120 5 177994114 stop gained G/A;C snv 4.0E-06
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2011 2016
dbSNP: rs1057517041
rs1057517041 		1.000 0.120 5 177993049 splice acceptor variant T/A snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1554182645
rs1554182645 		1.000 0.120 5 177995932 start lost A/G snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs587776682
rs587776682 		1.000 0.120 5 177994324 frameshift variant GGAGCACTCGAGT/- delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs786204663
rs786204663 		1.000 0.120 5 177994138 frameshift variant G/- delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1057516832
rs1057516832 		1.000 0.120 5 177994159 frameshift variant GA/- delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057516846
rs1057516846 		1.000 0.120 5 177994340 splice acceptor variant T/C snv 7.0E-06
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057517027
rs1057517027 		1.000 0.120 5 177992999 frameshift variant TG/- delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057517424
rs1057517424 		1.000 0.120 5 177994250 frameshift variant -/G delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1436089021
rs1436089021 		1.000 0.120 5 177994105 splice donor variant C/T snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554182405
rs1554182405 		1.000 0.120 5 177993002 frameshift variant -/GC delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554182481
rs1554182481 		1.000 0.120 5 177994108 stop gained G/A snv
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554182507
rs1554182507 		1.000 0.120 5 177994256 frameshift variant -/C delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0