Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease 0.200 None 1.000 0 0 2004 2017
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2016 2018
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C1561989
Disease: Limbal stem cell deficiency
Limbal stem cell deficiency 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0259799
Disease: Punctate keratitis
Punctate keratitis 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0546393
Disease: Macular cutaneous amyloidosis
Macular cutaneous amyloidosis 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0745091
Disease: Hypereosinophilia
Hypereosinophilia 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C1562761
Disease: Punctate epithelial keratitis
Punctate epithelial keratitis 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0162323
Disease: Polyarthritis
Polyarthritis 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 0