Autoimmune lymphoproliferative disorder

Disease Term Disease ID Gene Symbol Classification References Source
Autoimmune Lymphoproliferative Syndrome C1328840 CASP8 Causal Pathogenic evidence from ClinVar - ClinVar
FAS Causal Pathogenic evidence from ClinVar 7540117, 8929361, 9028321, 9028957, 9322534, 9821419, 9927496, 10090885, 10340403, 10515860, 11418480, 15877736, 17336828, 17674358, 20935634, 21885602, 22983577, 26258116 ClinVar
FASLG Causal Pathogenic evidence from ClinVar 8787672, 16627752, 17605793, 26334989, 27848183 ClinVar
NRAS Causal Pathogenic evidence from ClinVar 17517660 ClinVar
PRKCD Causal Pathogenic evidence from ClinVar 23430113 ClinVar
CASP10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10412980, 17999750 -
RASGRP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29155103 -
TNFAIP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29317407 -
Autoimmune Lymphoproliferative Syndrome Type 2B C1846545 CASP8 Causal Pathogenic evidence from ClinVar 12353035, 16446975, 21447005 ClinVar
FAS Causal Pathogenic evidence from ClinVar 15877736, 17674358 ClinVar
FASLG Causal Pathogenic evidence from ClinVar - ClinVar
NRAS Causal Pathogenic evidence from ClinVar 17517660 ClinVar
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1867198 -
COL5A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9042913 -
COL5A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9425231 -
Autoimmune lymphoproliferative syndrome 3261 FAS Causal Pathogenic evidence from ClinVar - ClinVar
FASLG Causal Pathogenic evidence from ClinVar - ClinVar
PRKCD Causal Pathogenic evidence from ClinVar - ClinVar
CASP10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RASGRP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Autoimmune Lymphoproliferative Syndrome, Type IA C1866119 FAS Causal Pathogenic evidence from ClinVar - ClinVar
Autoimmune Lymphoproliferative Syndrome, Type IB C1866120 FASLG Causal Pathogenic evidence from ClinVar - ClinVar
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III C3809928 PRKCD Causal Pathogenic evidence from ClinVar 23430113 ClinVar
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 436159 CTLA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -