DisGeNET - a database of gene-disease associations

Source: CLINVAR

Diseases associated to Variant: rs1085308042 ×

Results per page

Gene

Disease

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes	Num. SNPs
C0557874	Global developmental delay	disease		Mental or Behavioral Dysfunction		Abnormality of the nervous system	303	505
C2243051	Large head (disorder)	phenotype		Finding		Abnormality of head or neck; Abnormality of the skeletal system	64	116
C0856975	Autistic behavior	disease	Behavior and Behavior Mechanisms	Mental or Behavioral Dysfunction		Abnormality of the nervous system	44	76
C1959582	PTEN Hamartoma Tumor Syndrome	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms	Neoplastic Process	genetic disease; disease of anatomical entity; syndrome		3	193