Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.530 Biomarker disease CTD_human
CUI: C0001916
Disease: Albinism
Albinism 		0.410 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease HPO
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		0.400 Biomarker disease HPO
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10 		0.400 CausalMutation disease CLINVAR
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.200 Biomarker disease MGD
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026205
Disease: Miosis disorder
Miosis disorder 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.100 Biomarker group HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.100 Biomarker phenotype HPO