FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
0.760 Biomarker disease CTD_human
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
0.760 Biomarker disease GENOMICS_ENGLAND
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
0.760 CausalMutation disease CLINVAR
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
0.760 GeneticVariation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.350 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures
0.120 Biomarker phenotype HPO
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.110 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.100 Biomarker disease HPO
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence
0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
0.100 Biomarker phenotype HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0036454
Disease: Scotoma
Scotoma
0.100 Biomarker phenotype HPO
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
0.100 GeneticVariation disease CLINVAR
CUI: C0037763
Disease: Spasm
Spasm
0.100 Biomarker phenotype HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.100 Biomarker phenotype HPO
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
0.100 Biomarker disease HPO