DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source Last Updated
DisGeNET July 29, 2024
Displaying entries 8701 - 8725 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0030044 Acrocephaly FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0795690 Congenital omphalocele FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C1968949 Cakut FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C3495676 Anorectal Malformations FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0405580 Adrenal cortical hypofunction CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0268292 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0001627 Congenital adrenal hyperplasia CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0206686 Adrenocortical carcinoma CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0020428 Hyperaldosteronism CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0001623 Adrenal gland hypofunction CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0010278 Craniosynostosis CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C1384514 Conn Syndrome CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0007222 Cardiovascular Diseases CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C1260386 Glucocorticoid-remediable aldosteronism CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0221406 Pituitary-dependent Cushing's disease CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0006142 Malignant neoplasm of breast CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0018801 Heart failure CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0010481 Cushing Syndrome CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0020538 Hypertensive disease CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C1848296 DOSAGE-SENSITIVE SEX REVERSAL CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0520463 Chronic active hepatitis CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C2936858 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0001126 Renal tubular acidosis CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0740457 Malignant neoplasm of kidney CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0001430 Adenoma CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538

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Last updated: August 19, 2024