DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA 		0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C1846431
Disease: SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA 		0.820 Biomarker disease CTD_human
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		0.780 Biomarker disease CTD_human
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		0.780 CausalMutation disease CLINVAR
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		0.650 Biomarker disease GENOMICS_ENGLAND
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		0.650 CausalMutation disease CLINVAR
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1844654
Disease: X-linked Dyggve-Melchior-Clausen syndrome
X-linked Dyggve-Melchior-Clausen syndrome 		0.300 Biomarker disease CTD_human
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.110 Biomarker group HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO