SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 CausalMutation disease CLINVAR
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker disease CTD_human
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker disease MGD
CUI: C0729264
Disease: Preterm premature rupture of membranes (disorder)
Preterm premature rupture of membranes (disorder) 		0.500 Biomarker phenotype CTD_human
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 Biomarker disease MGD
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015944
Disease: Fetal Membranes, Premature Rupture
Fetal Membranes, Premature Rupture 		0.100 Biomarker phenotype HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0239676
Disease: High forehead
High forehead 		0.100 Biomarker phenotype HPO
CUI: C0241703
Disease: High pitched voice
High pitched voice 		0.100 Biomarker phenotype HPO
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.100 Biomarker disease HPO
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 Biomarker phenotype HPO
CUI: C0426818
Disease: Thin rib
Thin rib 		0.100 Biomarker phenotype HPO
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 Biomarker phenotype HPO
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		0.100 Biomarker disease HPO
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.100 Biomarker disease HPO
CUI: C1835884
Disease: Triangular face
Triangular face 		0.100 Biomarker phenotype HPO