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 54051 - 54075 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Gene Name UniProt ID
C0265534 Scaphycephaly FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0235833 Congenital diaphragmatic hernia FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0019693 HIV Infections FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0221356 Brachycephaly FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0478099 Other deletions of part of a chromosome FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0019284 Diaphragmatic Hernia FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0026010 Microphthalmos FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0265535 Trigonocephaly FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C1609433 Congenital absence of kidneys syndrome FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0015397 Disorder of eye FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C1833340 Synostotic Posterior Plagiocephaly FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C1860819 Metopic synostosis FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0001815 Primary Myelofibrosis FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0542519 Congenital absence of kidney FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
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
C3151055 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C0848558 Hypospadias CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C1704272 Benign Prostatic Hyperplasia CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C0023903 Liver neoplasms CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C0520463 Chronic active hepatitis CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C0175701 Aarskog syndrome CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C0264408 Childhood asthma CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108

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Last updated: August 19, 2024