Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SEVERE COMBINED IMMUNODEFICIENCY DUE TO CTPS1 DEFICIENCY	420573 MONDO:0014391	CTPS1	Unknown	24870241	ClinGen ClinVar Orphanet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 1 DEFICIENCY	C4706524	CTPS1	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO DCLRE1C DEFICIENCY	275 MONDO:0011225	DCLRE1C	Causal	12055248	ClinGen ClinVar GenCC Orphanet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO DEOXYRIBONUCLEIC ACID DEPENDENT PROTEIN KINASE CATALYTIC SUBUNIT DEFICIENCY	C4274221	PRKDC	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY	317425 MONDO:0014423	PRKDC	Causal	11489998 19075392 19823081 22981234 23722905 25842288 26546606 27566103 30121298 30778343 8524788	ClinGen ClinVar GWAS catalog Orphanet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO FOXN1 DEFICIENCY	169095	FOXN1	Unknown	10206641	Orphanet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY	C5190593 MONDO:0014267	IKBKB	Causal	24369075 24679846 25139357 25216719 32117824	ClinGen ClinVar Disgenet GWAS catalog
SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY	504523 MONDO:0044721	LAT	Causal	27242165 27522155	ClinGen ClinVar GWAS catalog Orphanet
SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY	MONDO:0014334	LCK	Causal	10952314 1579166 22985903 2416464 27087313 37962568 38100037 38112969 9664084 9880255	ClinGen ClinVar GenCC
SEVERE COMBINED IMMUNODEFICIENCY DUE TO LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE DEFICIENCY	C5191006	LCK	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION	C1969799 MESH:C566970	NHEJ1	Unknown	—	CTD Disgenet
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION	C1865370 602450 MESH:C537589	ARID1B	Unknown	—	Disgenet
		DCLRE1C	Unknown	—	CTD Disgenet HPO
		LIG4	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE	C1865371	DCLRE1C	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL	C1849236	ZAP70	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL NEGATIVE, B CELL POSITIVE, NK CELL POSITIVE	C1837028 MESH:C563822	IL7R	Unknown	—	CTD Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	102700 MONDO:0007064	ADA	Causal	—	ClinGen ClinVar GenCC HPO
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	C1832322 601457 MESH:C563311 MONDO:0011086	ADA	Causal	—	Disgenet
		RAG1	Causal	—	CTD ClinVar Disgenet GenCC HPO
		RAG2	Causal	21184155 2618670 8810255	CTD ClinVar Disgenet GWAS catalog HPO
		IFTAP	Unknown	—	Disgenet
		JAK3	Unknown	—	Disgenet
		SALL4	Unknown	—	Disgenet
		TXNDC15	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE	600802 C1833275 MESH:C563440	JAK3	Unknown	—	CTD Disgenet HPO
SEVERE COMBINED IMMUNODEFICIENCY, MICROCEPHALY, GROWTH RETARDATION, SENSITIVITY TO IONIZING RADIATION SYNDROME	C4303792	NHEJ1	Unknown	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL	C1865373	DCLRE1C	Causal	—	Disgenet
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	300400	IL2RG	Unknown	—	HPO

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Severe combined immunodeficiency