Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 Biomarker disease HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.100 Biomarker phenotype HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239479
Disease: Round face
Round face 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.100 Biomarker disease HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0813217
Disease: Expressionless face
Expressionless face 		0.100 Biomarker phenotype HPO
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.100 Biomarker phenotype HPO
CUI: C1853638
Disease: Broad neck
Broad neck 		0.100 Biomarker phenotype HPO