Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
0.300 Biomarker disease GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219 2018
Entrez Id: 695
Gene Symbol: BTK
BTK
0.110 GeneticVariation disease BEFREE We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. 30240888 2019
Entrez Id: 54809
Gene Symbol: SAMD9
SAMD9
0.110 GeneticVariation disease BEFREE In addition to DSD and SGA, the patient had neonatal thrombocytopenia, severe postnatal grow restriction, chronic diarrhea and susceptibility to infection, all features consistent with MIRAGE, leading to premature death at age 14 months. 30403727 2018
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.110 Biomarker disease BEFREE Herein, we reported 4 patients with RAG1 deficiency: classic SCID was seen in two patients who presented with recurrent pneumonia and chronic diarrhoea, and failure to thrive. 26689875 2015
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.110 Biomarker disease HPO
Entrez Id: 54809
Gene Symbol: SAMD9
SAMD9
0.110 Biomarker disease HPO
Entrez Id: 695
Gene Symbol: BTK
BTK
0.110 Biomarker disease HPO
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100 GeneticVariation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
0.100 Biomarker disease HPO
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A
0.100 Biomarker disease HPO
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B
0.100 CausalMutation disease CLINVAR
Entrez Id: 50615
Gene Symbol: IL21R
IL21R
0.100 Biomarker disease HPO
Entrez Id: 59067
Gene Symbol: IL21
IL21
0.100 Biomarker disease HPO
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.100 CausalMutation disease CLINVAR
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
0.100 Biomarker disease HPO
Entrez Id: 100
Gene Symbol: ADA
ADA
0.100 Biomarker disease HPO
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.100 Biomarker disease HPO
Entrez Id: 1380
Gene Symbol: CR2
CR2
0.100 Biomarker disease HPO
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.100 Biomarker disease HPO
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
0.100 Biomarker disease HPO
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
0.100 Biomarker disease HPO
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
0.100 CausalMutation disease CLINVAR
Entrez Id: 7454
Gene Symbol: WAS
WAS
0.100 Biomarker disease HPO
Entrez Id: 987
Gene Symbol: LRBA
LRBA
0.100 Biomarker disease HPO
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
0.100 Biomarker disease HPO