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: 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: 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: 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: 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: 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