Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		0.750 Biomarker disease CTD_human
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.740 Biomarker disease CTD_human
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.740 Biomarker disease CTD_human
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 Biomarker disease CTD_human
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 CausalMutation disease CLINVAR
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.600 GeneticVariation disease CLINVAR
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 CausalMutation disease CLINVAR
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.170 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.130 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.110 Biomarker disease HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.110 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.110 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 CausalMutation disease CLINVAR
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 GeneticVariation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 Biomarker disease HPO