ADAMTSL1, ADAMTS like 1, 92949

N. diseases: 40; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		0.100 Biomarker disease HPO
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.100 Biomarker disease HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.100 Biomarker disease HPO
CUI: C0751572
Disease: Vertebrobasilar Dolichoectasia
Vertebrobasilar Dolichoectasia 		0.100 Biomarker disease HPO
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 Biomarker phenotype HPO
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.100 Biomarker disease HPO
CUI: C1832127
Disease: Square face
Square face 		0.100 Biomarker phenotype HPO
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		0.100 Biomarker phenotype HPO
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		0.100 Biomarker phenotype HPO
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		0.100 Biomarker disease HPO
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.100 Biomarker phenotype HPO
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		0.100 Biomarker disease HPO
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.010 AlteredExpression disease BEFREE Gene profiling studies identified genes differentially expressed in chondrosarcomas following IPI-926 treatment, one of which, ADAMTSL1, regulates chondrosarcoma cell proliferation. 24634412 2014