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: rs1554182514
rs1554182514 		1.000 0.120 5 177994291 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
dbSNP: rs1554182632
rs1554182632 		1.000 0.120 5 177995858 frameshift variant -/TC delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776681
rs587776681 		1.000 0.120 5 177994297 frameshift variant TC/- delins
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs762529663
rs762529663 		1.000 0.120 5 177992833 frameshift variant G/- del 4.0E-06
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
Pituitary Dwarfism Type 3 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs794726693
rs794726693 		1.000 0.120 5 177994174 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