Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 Biomarker disease GENOMICS_ENGLAND The generated Sh3tc2 knockout mice thus present a reliable model of CMT4C neuropathy that was instrumental in establishing a role for Sh3tc2 in myelination and in the integrity of the node of Ranvier, a morphological phenotype that can be used as an additional CMT4C diagnostic marker. 19805030 2009
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C3150596
Disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
MONONEUROPATHY OF THE MEDIAN NERVE, MILD 		0.700 Biomarker disease GENOMICS_ENGLAND SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. 19805030 2009
CUI: C3150596
Disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
MONONEUROPATHY OF THE MEDIAN NERVE, MILD 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 GeneticVariation disease UNIPROT Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644 2003
CUI: C3150596
Disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
MONONEUROPATHY OF THE MEDIAN NERVE, MILD 		0.700 GeneticVariation disease UNIPROT Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177 2010
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 Biomarker disease HPO
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		0.120 Biomarker disease HPO
CUI: C0494491
Disease: Mononeuropathies
Mononeuropathies 		0.110 Biomarker group HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.100 Biomarker disease HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 Biomarker phenotype HPO
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		0.100 Biomarker phenotype HPO
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		0.100 Biomarker phenotype HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO