Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		0.100 Biomarker disease HPO
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		0.020 Biomarker phenotype BEFREE Glomerulosclerosis and tubulointerstitial fibrosis are hallmarks of chronic kidney injury leading to end-stage renal disease. 30597038 2020
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		0.020 Biomarker phenotype BEFREE Glomerulosclerosis and tubulointerstitial fibrosis are associated with lower renal parenchymal elasticity. 28240304 2017
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.030 GeneticVariation disease BEFREE Proximal symphalangism (SYM1; OMIM 185800), also called Cushing's symphalangism, is an infrequent autosomal dominant disease. 31370824 2019
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.030 GeneticVariation disease BEFREE Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. 7557985 1995
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.030 GeneticVariation disease BEFREE We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. 10080184 1999
CUI: C0037763
Disease: Spasm
Spasm 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0037763
Disease: Spasm
Spasm 		0.100 CausalMutation phenotype CLINVAR
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 CausalMutation phenotype CLINVAR
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 GeneticVariation phenotype CLINVAR
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		0.010 Biomarker disease BEFREE Mpv17-negative mice suffer from severe sensorineural hearing loss as early as 2 months after birth. 9447939 1997
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.100 GeneticVariation disease CLINVAR
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.100 CausalMutation disease CLINVAR
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.100 GeneticVariation disease CLINVAR
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.100 CausalMutation disease CLINVAR
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation disease CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation disease CLINVAR