RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Spondylometaphyseal dysplasia, Sedaghatian type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855229
Disease: Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia, Sedaghatian type 		0.010 AlteredExpression disease BEFREE GO: Gene Ontology; ART: assisted reproductive technology; IVF: in vitro fertilization; ICSI: intra-cytoplasmic sperm injection; RNA-seq: RNA-sequencing; TIC: timed intercourse; IUI: intrauterine insemination; SRE: sperm RNA elements; HPA: Human Protein Atlas; SMDS: sedaghatian-type spondylometaphyseal dysplasia; DBA: Diamond-Blackfan anemia; RPKM: reads per kilobase per million; TPM: transcripts per million; IPA: Ingenuity Pathway Analysis; OMIM: Online Mendelian Inheritance in Man. 29199464 2018