Entry Search - 104300 104311 104760 600759 606889 607822 - OMIM
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Search: '104300 104311 104760 600759 606889 607822 (Search in: MIM number)'
Results: 6 entries.

1:
# 606889. ALZHEIMER DISEASE 4; AD4
Cytogenetic location: 1q42.13
Matching terms: 606889
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1q42.13 Alzheimer disease-4 606889 AD 3 PSEN2 600759
ICD+
ORPHA: 1020
DO: 0110040

2:
# 104300. ALZHEIMER DISEASE, FAMILIAL, 1; AD1
ALZHEIMER DISEASE, INCLUDED; AD, INCLUDED
Cytogenetic locations: 7q36.1, 10q22.2, 17q22, 21q21.3
Matching terms: 104300
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
7q36.1 {Alzheimer disease, late-onset, susceptibility to} 104300 AD 3 NOS3 163729
10q22.2 {Alzheimer disease, late-onset, susceptibility to} 104300 AD 3 PLAU 191840
17q22 {Alzheimer disease, susceptibility to} 104300 AD 3 MPO 606989
21q21.3 Alzheimer disease 1, familial 104300 AD 3 APP 104760
ICD+
SNOMEDCT: 26929004
ICD10CM: G30, G30.9
ICD9CM: 331.0
ORPHA: 1020
DO: 0080348

3:
* 104311. PRESENILIN 1; PSEN1
Cytogenetic location: 14q24.2, Genomic coordinates (GRCh38): 14:73,136,417-73,223,691
Matching terms: 104311
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
14q24.2 ?Acne inversa, familial, 3 613737 AD 3
?Cardiomyopathy, dilated, 1U 613694 AD 3
Alzheimer disease, type 3, with or without spastic paraparesis 607822 AD 3
Dementia, frontotemporal 600274 AD 3
Pick disease 172700 AD 3
ICD+
SNOMEDCT: 230270009
ICD10CM: G31.0, G31.01
ICD9CM: 331.1, 331.11

4:
* 104760. AMYLOID BETA A4 PRECURSOR PROTEIN; APP
Cytogenetic location: 21q21.3, Genomic coordinates (GRCh38): 21:25,880,550-26,171,128
Matching terms: 104760
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
21q21.3 Alzheimer disease 1, familial 104300 AD 3
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 AD 3
ICD+
SNOMEDCT: 56453003

5:
# 607822. ALZHEIMER DISEASE 3; AD3
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED
Cytogenetic locations: 14q24.2, 19q13.32
Matching terms: 607822
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
14q24.2 Alzheimer disease, type 3, with or without spastic paraparesis 607822 AD 3 PSEN1 104311
19q13.32 {?Alzheimer disease, protection against, due to APOE3-Christchurch} 607822 AD 3 APOE 107741
ICD+
ORPHA: 1020
DO: 0110042

6:
* 600759. PRESENILIN 2; PSEN2
Cytogenetic location: 1q42.13, Genomic coordinates (GRCh38): 1:226,870,616-226,903,668
Matching terms: 600759
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
1q42.13 Alzheimer disease-4 606889 AD 3
Cardiomyopathy, dilated, 1V 613697 AD 3
Search: 104300 104311 104760 600759 606889 607822 (Search in: MIM number)
Results: 6 entries.

1:
# 606889. ALZHEIMER DISEASE 4; AD4
Cytogenetic location: 1q42.13
Matching terms: 606889

2:
# 104300. ALZHEIMER DISEASE, FAMILIAL, 1; AD1
ALZHEIMER DISEASE, INCLUDED; AD, INCLUDED
Cytogenetic locations: 7q36.1, 10q22.2, 17q22, 21q21.3
Matching terms: 104300

3:
* 104311. PRESENILIN 1; PSEN1
Cytogenetic location: 14q24.2, Genomic coordinates (GRCh38): 14:73,136,417-73,223,691
Matching terms: 104311

4:
* 104760. AMYLOID BETA A4 PRECURSOR PROTEIN; APP
Cytogenetic location: 21q21.3, Genomic coordinates (GRCh38): 21:25,880,550-26,171,128
Matching terms: 104760

5:
# 607822. ALZHEIMER DISEASE 3; AD3
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED
Cytogenetic locations: 14q24.2, 19q13.32
Matching terms: 607822

6:
* 600759. PRESENILIN 2; PSEN2
Cytogenetic location: 1q42.13, Genomic coordinates (GRCh38): 1:226,870,616-226,903,668
Matching terms: 600759