HCCS, holocytochrome c synthase, 3052

N. diseases: 135; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 Biomarker disease HPO
CUI: C0026884
Disease: Mutism
Mutism 		0.100 Biomarker phenotype HPO
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 Biomarker disease HPO
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		0.100 Biomarker disease HPO
CUI: C0041834
Disease: Erythema
Erythema 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.100 Biomarker group HPO
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		0.100 Biomarker disease HPO
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0221182
Disease: Chordee
Chordee 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0235812
Disease: Vitritis
Vitritis 		0.100 Biomarker disease HPO
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.100 Biomarker disease HPO
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		0.100 Biomarker disease HPO
CUI: C0266210
Disease: Congenital anomaly of rectum
Congenital anomaly of rectum 		0.100 Biomarker disease HPO
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		0.100 Biomarker disease HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 Biomarker disease HPO