PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
0.700 CausalMutation disease CLINVAR
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
0.700 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.510 GeneticVariation disease UNIPROT
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.310 GeneticVariation disease UNIPROT
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 Biomarker disease HPO
CUI: C0151908
Disease: Dry skin
Dry skin
0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.100 Biomarker phenotype HPO
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder)
0.100 Biomarker disease HPO
Precocious exfoliation of primary tooth
0.100 Biomarker phenotype HPO
CUI: C0423757
Disease: Thin skin
Thin skin
0.100 Biomarker phenotype HPO
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
0.100 Biomarker phenotype HPO
Delayed speech and language development
0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.100 Biomarker phenotype HPO
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
0.100 Biomarker phenotype HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
0.100 Biomarker phenotype HPO
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
0.100 Biomarker phenotype HPO
CUI: C1856963
Disease: Fragile nails
Fragile nails
0.100 Biomarker phenotype HPO
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO