Source: ALL

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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.320 None 0.500 2 0 2011 2013
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.100 None 0.990 97 0 1993 2018
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 1.000 60 0 2003 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group 0.100 None 0.957 46 0 1999 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease 0.100 None 1.000 40 0 2003 2014
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.100 None 0.971 34 0 2002 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.100 None 0.971 34 0 2002 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.100 None 0.962 26 0 2004 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.100 None 0.962 26 0 1998 2015
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease 0.100 None 0.957 23 0 2000 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.100 None 0.955 22 0 1998 2015
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease 0.100 None 0.952 21 0 2000 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease 0.100 None 0.952 21 0 2000 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 21 0 2005 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.100 None 1.000 19 0 2005 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 15 0 2004 2018
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group 0.100 None 1.000 14 0 1997 2012
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype 0.100 None 1.000 14 0 1993 2017
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease 0.100 None 1.000 12 0 2005 2013
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.100 None 1.000 10 0 2007 2017
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0026499
Disease: Monosomy
Monosomy 		group 0.100 None 0.900 10 0 2005 2015
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease 0.100 None 0.900 10 0 2007 2016
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.090 None 1.000 9 0 2005 2016
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease 0.090 None 1.000 9 0 2005 2012
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease 0.090 None 1.000 9 0 2009 2019