Phenotype: Abnormal natural killer cell morphology (HP:0012176)
Associated genes and diseases:
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
gene_symbol: CD3D
disease_id: OMIM:615617
disease_name: IMMUNODEFICIENCY 19
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: ORAI1
disease_id: OMIM:612782
disease_name: IMMUNODEFICIENCY 9
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: RAG1
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: RAG2
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: MYD88
disease_id: OMIM:612260
disease_name: IMMUNODEFICIENCY 68
gene_symbol: DNMT3B
disease_id: OMIM:242860
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
gene_symbol: CD70
disease_id: OMIM:618261
disease_name: LYMPHOPROLIFERATIVE SYNDROME 3
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: MCM10
disease_id: OMIM:619313
disease_name: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY
gene_symbol: PIK3R1
disease_id: OMIM:615214
disease_name: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: MCM4
disease_id: OMIM:609981
disease_name: IMMUNODEFICIENCY 54
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: NLRC4
disease_id: OMIM:616050
disease_name: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: JAK3
disease_id: OMIM:600802
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
gene_symbol: JAK3
disease_id: ORPHA:35078
disease_name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ SCID due to JAK3 deficiency
gene_symbol: GINS1
disease_id: OMIM:617827
disease_name: IMMUNODEFICIENCY 55